Human Reproductive System Overview
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Questions and Answers

What is the primary function of the reproductive system?

  • Facilitating childbirth
  • Regulating body temperature
  • Production of hormones
  • Production of gametes (correct)

Which of the following correctly identifies male gametes?

  • Sperm cells (correct)
  • Oocytes
  • Zygotes
  • Egg cells

What is the process called through which gametes are produced?

  • Meiosis (correct)
  • Spermatogenesis
  • Mitosis
  • Fertilization

What does the zygote represent?

<p>A fertilized egg cell (B)</p> Signup and view all the answers

What is the function of the epididymis in the male reproductive system?

<p>To store and mature sperm (C)</p> Signup and view all the answers

Which structure produces enzymes to liquefy semen?

<p>Prostate gland (B)</p> Signup and view all the answers

Which muscle controls the temperature of the scrotum?

<p>Dartos muscle (D)</p> Signup and view all the answers

What type of cells undergo meiosis during spermatogenesis?

<p>Primary spermatocytes (D)</p> Signup and view all the answers

What is contained within the head of a sperm cell?

<p>Acrosome (B)</p> Signup and view all the answers

Which gland secretes mucus that neutralizes vaginal pH?

<p>Bulbourethral glands (C)</p> Signup and view all the answers

What is the primary function of the epididymis in the male reproductive system?

<p>Maturation and development of sperm cells (A)</p> Signup and view all the answers

Which hormone is primarily responsible for stimulating testosterone production in the testes?

<p>Luteinizing hormone (LH) (D)</p> Signup and view all the answers

What is the role of seminal vesicles in the male reproductive system?

<p>Production of fructose and prostaglandins (B)</p> Signup and view all the answers

Which part of the female reproductive system is primarily responsible for the receiving and nourishing of a fertilized egg?

<p>Uterus (B)</p> Signup and view all the answers

What process begins before birth in females?

<p>Oogenesis (B)</p> Signup and view all the answers

What is the primary sex hormone produced by the testes?

<p>Testosterone (A)</p> Signup and view all the answers

What is the term for the shedding of the endometrium during the menstrual cycle?

<p>Menstruation (B)</p> Signup and view all the answers

Which structure connects the ovaries to the uterus in the female reproductive system?

<p>Uterine tubes (C)</p> Signup and view all the answers

What gland secretes mucus to neutralize vaginal acidity?

<p>Bulbourethral glands (B)</p> Signup and view all the answers

Which hormone is responsible for triggering ovulation in females?

<p>Luteinizing hormone (LH) (C)</p> Signup and view all the answers

What role does prolactin play in the female body?

<p>Stimulates milk production (D)</p> Signup and view all the answers

During which stage of the menstrual cycle does the endometrium rebuild?

<p>Proliferative Stage (D)</p> Signup and view all the answers

What hormone triggers the release of the egg from the ovary?

<p>LH (B)</p> Signup and view all the answers

What marks the beginning of puberty in females?

<p>Menarche (C)</p> Signup and view all the answers

Which gland produces LH and FSH?

<p>Anterior pituitary gland (D)</p> Signup and view all the answers

What is the average duration of the menstrual cycle?

<p>28 days (D)</p> Signup and view all the answers

What happens to estrogen and progesterone levels during menstruation?

<p>Both are low (C)</p> Signup and view all the answers

Which of the following is NOT a method of contraception?

<p>Menopause (D)</p> Signup and view all the answers

What is the role of progesterone during the menstrual cycle?

<p>Promotes endometrial cell enlargement (B)</p> Signup and view all the answers

What occurs during the secretory stage of the menstrual cycle?

<p>Endometrium prepares for implantation (A)</p> Signup and view all the answers

What is the primary role of interstitial cells in the male reproductive system?

<p>Produce testosterone (D)</p> Signup and view all the answers

At which temperature does sperm development most effectively occur?

<p>Below normal body temperature (A)</p> Signup and view all the answers

Which phase in spermatogenesis directly follows the secondary spermatocyte?

<p>Spermatids (B)</p> Signup and view all the answers

What is the purpose of the acrosome in a sperm cell?

<p>Assist in penetrating the egg membrane (D)</p> Signup and view all the answers

What structure connects the epididymis to the seminal vesicles?

<p>Ductus deferens (D)</p> Signup and view all the answers

Which of the following best describes the function of sustentacular cells?

<p>Nourish germ cells (C)</p> Signup and view all the answers

What typically occurs during the menses phase of the menstrual cycle?

<p>Shedding of the endometrium (D)</p> Signup and view all the answers

Which component of sperm is primarily responsible for locomotion?

<p>Tail (C)</p> Signup and view all the answers

Which hormone levels are high during ovulation?

<p>Estrogen (C)</p> Signup and view all the answers

What is the term for the formation of sperm cells?

<p>Spermatogenesis (B)</p> Signup and view all the answers

What is the purpose of contraception?

<p>To prevent pregnancy (A)</p> Signup and view all the answers

What is the initial cell type that develops into sperm cells during spermatogenesis?

<p>Spermatogonia (D)</p> Signup and view all the answers

During which phase do estrogen levels remain high while progesterone levels are elevated?

<p>Secretory stage (C)</p> Signup and view all the answers

What structure serves as the site for sperm production?

<p>Seminiferous tubules (C)</p> Signup and view all the answers

What triggers the release of an egg from the ovary?

<p>Luteinizing Hormone (LH) (B)</p> Signup and view all the answers

Which method is classified under hormonal contraception?

<p>Contraceptive pills (C)</p> Signup and view all the answers

What happens to the menstrual cycle during menopause?

<p>It becomes irregular (B)</p> Signup and view all the answers

Which stage includes days 6 to 13 of the menstrual cycle?

<p>Proliferative stage (D)</p> Signup and view all the answers

What characteristic defines long-acting reversible contraception?

<p>Lasts for an extended period without the need for frequent action (B)</p> Signup and view all the answers

What occurs if fertilization does not happen by the end of the secretory stage?

<p>Menstrual bleeding begins (B)</p> Signup and view all the answers

What is the primary function of the prostate gland in the male reproductive system?

<p>Secretes enzymes to liquefy semen (A)</p> Signup and view all the answers

What hormones are released by the anterior pituitary gland in response to GnRH?

<p>LH and FSH (D)</p> Signup and view all the answers

During which reproductive phase is a mature oocyte released from the ovary?

<p>Ovulation (B)</p> Signup and view all the answers

What is the main function of the seminal vesicles?

<p>To provide nutrients and energy to sperm (A)</p> Signup and view all the answers

What role does estrogen play during puberty in females?

<p>Promotes proliferation of endometrial cells (A)</p> Signup and view all the answers

Which structure serves as the passageway for both urine and semen in males?

<p>Urethra (D)</p> Signup and view all the answers

What triggers the release of luteinizing hormone (LH) in both males and females?

<p>Gonadotropin-Releasing Hormone (GnRH) (A)</p> Signup and view all the answers

What structure in females is responsible for guiding the oocyte into the uterine tube?

<p>Fimbriae (D)</p> Signup and view all the answers

Which hormone is primarily responsible for stimulating milk production after childbirth?

<p>Prolactin (D)</p> Signup and view all the answers

What is the function of the bulbourethral gland?

<p>Secreting mucus that neutralizes vaginal pH (C)</p> Signup and view all the answers

What is the role of the dartos muscle in the male reproductive system?

<p>To regulate the temperature of the testes (B)</p> Signup and view all the answers

Which structure is primarily responsible for sperm production in males?

<p>Seminiferous tubules (B)</p> Signup and view all the answers

How many chromosomes are present in a sperm or egg cell?

<p>23 (B)</p> Signup and view all the answers

What occurs during spermatogenesis?

<p>Formation of sperm cells (A)</p> Signup and view all the answers

Which type of cell develops into sperm cells during spermatogenesis?

<p>Germ cells (B)</p> Signup and view all the answers

What is a zygote?

<p>A fertilized egg cell (D)</p> Signup and view all the answers

Which muscle helps pull the testes closer to the body in cold temperatures?

<p>Cremaster muscle (A)</p> Signup and view all the answers

What is the main function of sustentacular cells in the testes?

<p>To nourish germ cells (B)</p> Signup and view all the answers

When does spermatogenesis begin in males?

<p>During puberty (C)</p> Signup and view all the answers

What component of the sperm cell aids in fertilization?

<p>Acrosome (B)</p> Signup and view all the answers

What is the primary function of the midpiece of a sperm cell?

<p>Facilitates swimming with energy from mitochondria (A)</p> Signup and view all the answers

Which hormone is responsible for inhibiting FSH production?

<p>Inhibin (D)</p> Signup and view all the answers

Where does fertilization typically occur in the female reproductive system?

<p>Ampulla of the fallopian tube (B)</p> Signup and view all the answers

What role do the seminal vesicles play in the male reproductive system?

<p>Produce fructose and prostaglandins (C)</p> Signup and view all the answers

What is the function of the bulbourethral glands?

<p>Secrete mucus for lubrication (A)</p> Signup and view all the answers

Which structure serves as the passageway for both urine and reproductive fluids in males?

<p>Urethra (A)</p> Signup and view all the answers

In which phase of the menstrual cycle does the endometrium thicken?

<p>Secretory phase (A)</p> Signup and view all the answers

What process is initiated during puberty in females for the development of egg cells?

<p>Oogenesis (D)</p> Signup and view all the answers

What happens during a vasectomy?

<p>The ductus deferens is cut (D)</p> Signup and view all the answers

Which hormone triggers the release of oocytes from the ovaries?

<p>Luteinizing hormone (LH) (B)</p> Signup and view all the answers

What is the key hormone responsible for the maintenance of pregnancy?

<p>Progesterone (A)</p> Signup and view all the answers

During which phase of the menstrual cycle do estrogen levels begin to significantly rise?

<p>Proliferative Stage (D)</p> Signup and view all the answers

What process involves the attachment of a fertilized egg to the uterine wall?

<p>Implantation (B)</p> Signup and view all the answers

Which hormone is primarily responsible for stimulating breast tissue development during puberty?

<p>Estrogen (D)</p> Signup and view all the answers

What happens during the secretory stage of the menstrual cycle?

<p>High levels of progesterone are present (A)</p> Signup and view all the answers

At what age does puberty in females typically commence?

<p>11-13 years (C)</p> Signup and view all the answers

What process marks the first occurrence of menstrual bleeding in females?

<p>Menarche (C)</p> Signup and view all the answers

Which hormone is produced in the hypothalamus and stimulates the anterior pituitary to release FSH and LH?

<p>Gonadotropin-releasing hormone (GnRH) (C)</p> Signup and view all the answers

What is the average length of the menstrual cycle?

<p>28 days (D)</p> Signup and view all the answers

During menopause, what occurs in relation to hormone production?

<p>Hormone production decreases (B)</p> Signup and view all the answers

What term did Casimir Funk coin in 1912 that refers to essential nutrients for life?

<p>Vitamin (B)</p> Signup and view all the answers

Which vitamin deficiency is related to the disease known as scurvy?

<p>Vitamin C (A)</p> Signup and view all the answers

What was one of the first actions taken by the U.S. government to prevent nutrient deficiencies?

<p>Adding folic acid to grain products (D)</p> Signup and view all the answers

Which biochemist is recognized as the father of vitamin therapy?

<p>Casimir Funk (C)</p> Signup and view all the answers

In what decade did commercial vitamins and supplements become available?

<p>1930s (B)</p> Signup and view all the answers

Which deficiency is associated with the disease beri-beri?

<p>Vitamin B1 (C)</p> Signup and view all the answers

Which vitamin was popularly marketed in cod liver oil as 'bottled sunshine'?

<p>Vitamin D (A)</p> Signup and view all the answers

Which nutrient was added to salt to help prevent goiter?

<p>Iodine (D)</p> Signup and view all the answers

By what year had the discovery of all vitamins been completed?

<p>1948 (A)</p> Signup and view all the answers

What is the meaning of the prefix 'vita' in the word 'vitamin'?

<p>Life (C)</p> Signup and view all the answers

Which type of vitamins can accumulate in the body?

<p>Fat-soluble vitamins (C)</p> Signup and view all the answers

What is the primary way water-soluble vitamins are lost from the body?

<p>Through urine (B)</p> Signup and view all the answers

Which organization develops Dietary Reference Intakes (DRIs) for vitamins and minerals?

<p>National Academy of Medicine (C)</p> Signup and view all the answers

What is a primary reason for the controversy surrounding vitamins and their requirements?

<p>The historical belief in infections as the cause of diseases (A)</p> Signup and view all the answers

Why might multivitamins be beneficial?

<p>They supplement nutritional requirements not met through diet. (A)</p> Signup and view all the answers

Which of the following is an example of a trace mineral?

<p>Iodine (D)</p> Signup and view all the answers

What is the primary characteristic of water-soluble vitamins?

<p>They must dissolve in water before absorption. (D)</p> Signup and view all the answers

What nutrients do the Dietary Reference Intakes (DRIs) cover?

<p>Approximately 40 nutrient substances (C)</p> Signup and view all the answers

Which of the following correctly identifies fat-soluble vitamins?

<p>Vitamin A, vitamin D, vitamin E, vitamin K (D)</p> Signup and view all the answers

What role did researchers play in understanding vitamins and minerals?

<p>Their collaborative efforts resulted in a modern understanding of vitamins and minerals. (D)</p> Signup and view all the answers

Who coined the term 'vitamin'?

<p>Casimir Funk (A)</p> Signup and view all the answers

What condition is caused by a deficiency of vitamin C?

<p>Scurvy (B)</p> Signup and view all the answers

In which decade did the commercial availability of vitamin supplements begin?

<p>1930s (A)</p> Signup and view all the answers

Which vitamin deficiency was addressed by fortifying salt with iodine?

<p>Goiter (B)</p> Signup and view all the answers

What is considered the father of vitamin therapy?

<p>Casimir Funk (D)</p> Signup and view all the answers

Which vitamin was promoted as 'bottled sunshine' in the 1950s?

<p>Vitamin D (C)</p> Signup and view all the answers

By what year had all vitamins been discovered?

<p>1948 (B)</p> Signup and view all the answers

What was the main reason for the U.S. government to begin fortifying foods?

<p>To prevent common deficiencies (D)</p> Signup and view all the answers

Which was not a disease of deficiency identified by Casimir Funk?

<p>Diabetes (B)</p> Signup and view all the answers

What term describes the nutritional components missing in diseases of deficiency?

<p>Vitamins (C)</p> Signup and view all the answers

What distinguishes fat-soluble vitamins from water-soluble vitamins?

<p>Fat-soluble vitamins can be stored in the body. (C)</p> Signup and view all the answers

Which organization develops nutrient reference values for vitamins and minerals?

<p>National Academy of Medicine (D)</p> Signup and view all the answers

What are trace minerals needed for?

<p>Functions in very small amounts (A)</p> Signup and view all the answers

How are water-soluble vitamins primarily lost from the body?

<p>Through urine (D)</p> Signup and view all the answers

What role do multivitamins play in nutrition?

<p>They supplement dietary shortfalls. (B)</p> Signup and view all the answers

Which types of vitamins can accumulate in the body?

<p>Fat-soluble vitamins only (B)</p> Signup and view all the answers

What historical misunderstanding about diseases was clarified by the study of vitamins?

<p>Diseases were solely caused by infections. (A)</p> Signup and view all the answers

What is the primary function of the Dietary Reference Intakes (DRIs)?

<p>To provide guidelines for good nutrition (B)</p> Signup and view all the answers

Which nutrients are considered micronutrients?

<p>Vitamins and minerals (C)</p> Signup and view all the answers

What impact do water-soluble vitamins have on the body when they are not used?

<p>They are excreted in urine. (A)</p> Signup and view all the answers

What is the primary role of vitamins in the body?

<p>To serve as cofactors for enzymatic reactions (A)</p> Signup and view all the answers

Which mineral is classified as a quantity element required by the body?

<p>Calcium (A)</p> Signup and view all the answers

Which gene encodes the thiamine transporter responsible for intestinal uptake?

<p>SLC19A2 (A)</p> Signup and view all the answers

What condition is associated with mutations in the SLC19A2 gene?

<p>Thiamine responsive megaloblastic anemia syndrome (B)</p> Signup and view all the answers

What is the form of vitamin B1 that is absorbed by the small intestine?

<p>Thiamine (thiamin) (B)</p> Signup and view all the answers

What triggers episodic encephalopathy in THMD2 patients?

<p>Febrile illnesses (C)</p> Signup and view all the answers

Which enzyme is primarily responsible for converting thiamine to its active form?

<p>Thiamine pyrophosphokinase 1 (B)</p> Signup and view all the answers

What is a common symptom of thiamine deficiency?

<p>Mental confusion (C)</p> Signup and view all the answers

Which of the following best describes the condition known as Wernicke syndrome?

<p>Associated with chronic alcohol consumption (B)</p> Signup and view all the answers

What is required for the metabolism of branched-chain amino acids?

<p>Branched-chain ketoacid dehydrogenase (B)</p> Signup and view all the answers

What is a symptom associated with riboflavin deficiency?

<p>Photophobia (A), Angular stomatitis (D)</p> Signup and view all the answers

Which food is NOT a rich source of niacin?

<p>Fruits (B)</p> Signup and view all the answers

What is required for the synthesis of NAD from tryptophan?

<p>Vitamins B1, B2, and B6 (D)</p> Signup and view all the answers

Which condition is associated with niacin deficiency?

<p>Pellagra (D)</p> Signup and view all the answers

What is the main action of niacin in lowering cholesterol levels?

<p>Reduction of fatty acid mobilization from adipose tissue (A)</p> Signup and view all the answers

What is a primary characteristic of Wernicke-Korsakoff syndrome (WKS)?

<p>Severe memory loss (C)</p> Signup and view all the answers

Which enzyme is responsible for the conversion of riboflavin to flavin mononucleotide (FMN)?

<p>Riboflavin kinase (A)</p> Signup and view all the answers

What role does the SLC19A3 gene play in Wernicke-like disorders?

<p>It encodes thiamine transporter (A)</p> Signup and view all the answers

Which protein is significantly different from transketolase, lacking essential amino acids?

<p>TKTL1 (A)</p> Signup and view all the answers

What is the daily requirement of riboflavin for normal adults?

<p>1.2–1.7 mg/day (B)</p> Signup and view all the answers

Which enzyme is exclusively localized to the mitochondria?

<p>PANK2 (C)</p> Signup and view all the answers

Which of the following genes produces the highest expression levels in skeletal muscle?

<p>PANK4 (C)</p> Signup and view all the answers

What role does pyridoxal phosphate (PLP) play in the metabolism of amino acids?

<p>It functions as a cofactor in transamination reactions. (D)</p> Signup and view all the answers

Which dietary sources are rich in pantothenic acid?

<p>Whole grain cereals, legumes, and meat (D)</p> Signup and view all the answers

Which gene encodes the enzyme responsible for converting 4'-phosphopantetheine to coenzyme A?

<p>COASY (C)</p> Signup and view all the answers

What is the main consequence of vitamin B6 deficiency related to heme biosynthesis?

<p>Microcytic hypochromic anemia (D)</p> Signup and view all the answers

Which drugs are known to cause a deficiency in vitamin B6 by complexing with pyridoxal and PLP?

<p>Isoniazid and penicillamine (B)</p> Signup and view all the answers

What enzyme is crucial for the recycling of biotin from biocytin in the body?

<p>Biotinidase (C)</p> Signup and view all the answers

What role does pyruvate carboxylase serve in metabolism?

<p>Catalyzes the conversion of pyruvate to glucose (B)</p> Signup and view all the answers

What happens to homocysteine levels in the presence of vitamin B6 deficiency?

<p>They increase due to blockade in the CBS reaction (A)</p> Signup and view all the answers

What is the role of haptocorrin in the absorption of vitamin B12?

<p>It protects vitamin B12 while it travels through the stomach. (B)</p> Signup and view all the answers

Which statement accurately describes intrinsic factor?

<p>Its secretion is stimulated by histamine, acetylcholine, and gastrin. (A)</p> Signup and view all the answers

What is the function of cubilin in vitamin B12 absorption?

<p>It facilitates the transport of cobalamin across the intestinal barrier. (B)</p> Signup and view all the answers

What is the primary role of transcobalamin II?

<p>It binds to vitamin B12 for transport in the blood. (C)</p> Signup and view all the answers

Which of the following accurately describes the TCN1 gene?

<p>It encodes a precursor protein of 433 amino acids. (D)</p> Signup and view all the answers

Which enzyme is responsible for converting propionyl-CoA into methylmalonyl-CoA?

<p>Propionyl-CoA carboxylase (B)</p> Signup and view all the answers

What is one of the key functions of the α-subunit in propionyl-CoA carboxylase?

<p>Possessing the BC and BCCP activities (C)</p> Signup and view all the answers

What condition is caused by mutations in the MCCC1 gene?

<p>3-methylcrotonylglycinuria type I (B)</p> Signup and view all the answers

Which of the following foods is a rich source of biotin?

<p>Carrots (D)</p> Signup and view all the answers

What best describes the nature of profound biotinidase deficiency?

<p>It results from mutations in the BTD gene (C)</p> Signup and view all the answers

What is a main characteristic of thiamine metabolism dysfunction syndrome 2 (THMD2)?

<p>It leads to episodic encephalopathy. (B)</p> Signup and view all the answers

Which enzyme is responsible for converting thiamine to its active form?

<p>Thiamine pyrophosphokinase 1 (TPK1) (D)</p> Signup and view all the answers

What is a common symptom of thiamine deficiency?

<p>Nausea and appetite suppression (A)</p> Signup and view all the answers

What is the primary dietary source of thiamine?

<p>Yeasts and animal liver (B)</p> Signup and view all the answers

Which cofactor is not required by the pyruvate dehydrogenase complex?

<p>Folic acid (C)</p> Signup and view all the answers

What is the main function of vitamins within the body?

<p>To serve as cofactors for enzymatic reactions (A)</p> Signup and view all the answers

What is the consequence of destruction of the mammillary bodies in the brain associated with Korsakoff psychosis?

<p>Retrograde amnesia (A)</p> Signup and view all the answers

Which of the following is classified as a trace element?

<p>Zinc (A)</p> Signup and view all the answers

Which gene is linked to the cellular uptake of thiamine?

<p>SLC19A3 (A)</p> Signup and view all the answers

What role does the SLC19A2 gene play in thiamine uptake?

<p>Encodes thiamine transporter 1 (THTR1) (D)</p> Signup and view all the answers

Which symptom is NOT associated with riboflavin deficiency?

<p>Dizziness (A)</p> Signup and view all the answers

What are the potential outcomes of thiamine supplementation in individuals with Wernicke syndrome?

<p>Reversal of symptoms of beriberi (B)</p> Signup and view all the answers

Which disorder is associated with mutations in the SLC19A2 gene?

<p>Thiamine responsive megaloblastic anemia syndrome (A)</p> Signup and view all the answers

Which enzyme is NOT directly associated with riboflavin metabolism?

<p>Transketolase (D)</p> Signup and view all the answers

What substance is required to synthesize NAD from tryptophan?

<p>Vitamins B1, B2, and B6 (A)</p> Signup and view all the answers

What are the two types of vitamins based on their solubility?

<p>Water soluble and fat soluble (C)</p> Signup and view all the answers

What disorder is associated with mutations in the SLC52A2 gene?

<p>Brown-Vialetto-Van Laere syndrome 2 (D)</p> Signup and view all the answers

Which condition is associated with a diet deficient in niacin?

<p>Pellagra (D)</p> Signup and view all the answers

What is a known side effect of pharmacological doses of nicotinic acid?

<p>Cutaneous vasodilation (B)</p> Signup and view all the answers

Which gene encodes the transporter for intestinal uptake of nicotinic acid?

<p>SLC22A13 (D)</p> Signup and view all the answers

Which gene is responsible for the synthesis of coenzyme A?

<p>COASY (B)</p> Signup and view all the answers

What is a known function of Pantothenic acid?

<p>Serving as a component of the acyl carrier protein domain (A)</p> Signup and view all the answers

Which of the following symptoms is not associated with pantothenate deficiency?

<p>Increased fatigue (D)</p> Signup and view all the answers

What is the highest expression level of the PANK3 gene found?

<p>Intestinal tract (C)</p> Signup and view all the answers

Which vitamin B6 form is transformed into its active form within intestinal enterocytes?

<p>Pyridoxal phosphate (C)</p> Signup and view all the answers

What is a common consequence of vitamin B6 deficiency in relation to heme biosynthesis?

<p>Microcytic hypochromic anemia (A)</p> Signup and view all the answers

Which enzyme is primarily involved in the incorporation of biotin into biotin-requiring enzymes?

<p>Holocarboxylase synthetase (B)</p> Signup and view all the answers

Which drug is known to cause vitamin B6 deficiency by complexing with pyridoxal and PLP?

<p>Isoniazid (A), Penicillamine (B)</p> Signup and view all the answers

What is the primary role of acetyl-CoA carboxylase in human metabolism?

<p>Fatty acid synthesis (D)</p> Signup and view all the answers

What common symptom can result from vitamin B6 deficiency?

<p>Nervousness (B)</p> Signup and view all the answers

What is the primary function of propionyl-CoA carboxylase?

<p>Convert propionyl-CoA into methylmalonyl-CoA (C)</p> Signup and view all the answers

Which gene is responsible for encoding the α-subunit of 3-methylcrotonyl-CoA carboxylase?

<p>MCCC1 (D)</p> Signup and view all the answers

What condition can result from mutations in the BTD gene?

<p>Biotinidase deficiency (B)</p> Signup and view all the answers

What is one of the classic symptoms of holocarboxylase synthetase deficiency?

<p>Hypotonia (D)</p> Signup and view all the answers

Which of the following compounds increases in urine organic acid analysis in patients with holocarboxylase synthetase deficiency?

<p>Lactate (A)</p> Signup and view all the answers

What is the primary role of intrinsic factor in vitamin B12 absorption?

<p>Facilitating cobalamin uptake in the ileum (A)</p> Signup and view all the answers

Which of the following foods is considered a rich source of biotin?

<p>Swiss chard (B)</p> Signup and view all the answers

Which enzyme is responsible for hydrolyzing the haptocorrin-cobalamin complex in the small intestine?

<p>Trypsin (B)</p> Signup and view all the answers

What is the consequence of the AMN protein in intestinal uptake of cobalamin?

<p>It serves as an anchoring protein for cubilin. (D)</p> Signup and view all the answers

Where is the expression of the CBLIF gene primarily localized?

<p>Parietal cells of the stomach (D)</p> Signup and view all the answers

Flashcards

Gametes

Reproductive cells (sperm and egg).

Fertilization

Union of sperm and egg.

Zygote

Fertilized egg cell.

Testes

Male reproductive glands that produce sperm.

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Epididymis

Tube where sperm mature.

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Spermatogenesis

Formation of sperm cells.

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Seminiferous Tubules

Sperm-producing tubes within the testes.

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Sperm Cell Structure

Head (acrosome, nucleus), midpiece (mitochondria), tail.

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Scrotum

External sac that holds the testes.

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Accessory Glands

Seminal vesicles, prostate, bulbourethral, help create semen.

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Sperm Tail

Flagellum propelling sperm cell.

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Epididymis Function

Maturation and development of sperm swimming ability.

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Ductus Deferens

Connects epididymis to seminal vesicles.

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Seminal Vesicle Function

Produces fructose (sperm energy) and prostaglandins (thin cervix mucus).

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Prostate Gland Function

Surrounds urethra, secretes enzymes to liquify semen and neutralize vaginal acidity

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GnRH Function

Stimulates LH and FSH release in pituitary.

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LH Function

Stimulates testosterone production in testes.

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FSH Function

Stimulates sperm cell production (spermatogenesis).

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Oogenesis

Egg production in females. Begins before birth.

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Uterine Tube Function

Connects ovaries to uterus, site of fertilization.

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Female Reproductive System

The system of organs involved in producing offspring in females.

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Mammary Glands Function

Produce milk for nourishment of offspring.

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Puberty (Female)

The period of sexual maturation in females.

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Menarche

First menstruation.

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Estrogen's Role

Development and maintenance of female reproductive organs and characteristics.

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Progesterone's Role

Important for pregnancy maintenance and endometrial development.

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Menstrual Cycle

A monthly series of changes in the female reproductive system.

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Menopause

End of a woman's reproductive years.

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Contraception Methods

Techniques to prevent pregnancy.

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Ovulation

Release of mature egg.

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Vasectomy Site

The location of the incision used for permanent male sterilization.

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Reproductive System's Role

Allows species continuation, creates physical/functional differences between males/females, may influence behavior, but isn't essential for individual survival

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Seminal Vesicle Function

Adds fructose (energy) and prostaglandins (to thin cervical mucus) to semen.

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Gamete Formation Process

Creation of reproductive cells (sperm & egg) through meiosis, resulting in cells with 23 chromosomes.

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Male Reproductive Components

Testes, epididymis, ductus deferens, urethra, accessory glands, and supporting structures (scrotum, penis).

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Prostate Gland Role

Secretes enzymes to liquefy semen and neutralize vaginal pH.

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Bulbourethral Gland Function

Produces mucus to neutralize vaginal acidity before ejaculation.

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Spermatogenesis Stages

Germ cell, spermatogonia, primary spermatocyte, secondary spermatocyte, spermatids, sperm cells; a process of sperm development.

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Urethra's Role

Pathway for urine and semen.

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Sperm Cell Parts

Head (acrosome, nucleus), midpiece (mitochondria), and tail (flagellum), crucial for fertilization.

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Epididymis Function

Tube where sperm mature, gaining the ability to swim and attach to the egg.

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Penis Function

Deposits sperm into the female reproductive tract.

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Ovarian Follicles

Contain oocytes (egg cells) in the ovaries.

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Scrotum Function

External sac holding the testes, regulating temperature for optimal sperm development.

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Fertilization Definition

Fusion of sperm and egg, leading to the creation of a zygote.

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FSH's Role (Female)

Develops ovarian follicles during puberty and each menstrual cycle.

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Ovulation

Release of a mature oocyte (egg) from an ovary.

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Testes Role

Primary male reproductive organs producing both sperm and testosterone.

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Uterine Tube Function

Conduits the egg from the ovary to the uterus and site of fertilization

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Ductus Deferens Role

Tube connecting epididymis to seminal vesicles, carrying sperm forward.

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Menstrual Cycle

A series of changes in the female reproductive system, including menstruation, characterized by hormone fluctuations and endometrial changes.

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Menopause

The time when a woman's menstrual cycles stop permanently due to a decrease in ovarian function.

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Contraception

Methods and techniques used to prevent pregnancy.

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Menses

The shedding of the uterine lining, resulting in menstrual bleeding.

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Proliferative Stage

The phase of the menstrual cycle where the uterine lining rebuilds.

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Ovulation

Release of a mature egg from the ovary.

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Secretory Stage

The phase of the menstrual cycle where the uterine lining prepares for possible pregnancy.

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Hormonal Methods (Contraception)

Contraceptive methods involving hormones to prevent ovulation or fertilization.

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Sterilization (Contraception)

Permanent contraception methods that prevent sperm or egg release.

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Fertility Awareness (Contraception)

Contraceptive methods that involve tracking the menstrual cycle to determine fertile periods.

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Reproductive System's Role

Allows species continuation, creates physical/functional differences, and may influence behavior, though not vital for individual survival.

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Gamete Formation

Production of sperm and egg cells (gametes) through meiosis, resulting in cells with half the normal chromosome number.

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Fertilization

Union of sperm and egg cells, typically in the fallopian tube, leading to a zygote.

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Zygote

A fertilized egg cell, developing into an embryo until approximately 8 weeks.

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Scrotum Function

Regulates temperature for sperm development by holding the testes.

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Testes Function

Primary male reproductive organs producing sperm and testosterone.

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Spermatogenesis

The formation of sperm cells within the seminiferous tubules.

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Seminiferous Tubules

Location within the testes where sperm cells are produced during spermatogenesis

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Sperm Cell Structure

Head containing acrosome (enzyme), nucleus, and centriole; midpiece with mitochondria; tail for motility.

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Interstitial Cells

Cells in the testes that secrete testosterone.

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Midpiece Function

Part of a sperm cell containing mitochondria, which provide energy for movement.

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Tail's Role

The flagellum, facilitating sperm movement towards the egg.

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Seminiferous Tubules

Sperm cell production sites within the testes.

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Epididymis Function

Thread-like tubes where sperm mature and gain swimming ability.

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Seminal Vesicles' Role

Produce fructose (energy) and prostaglandins (thinner mucus) for sperm.

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Prostate Gland's Role

Liquefies semen and neutralizes vaginal acidity.

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GnRH's Role

Triggers LH & FSH release from pituitary, initiating hormonal regulation in males and females.

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Ovaries' Role

Produce egg cells (oocytes) and sex hormones (estrogen, progesterone).

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Uterine Tubes

Transport eggs from ovaries to uterus, where fertilization potentially occurs.

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Ovulation

Release of a mature egg from an ovary.

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Menstrual Cycle

Series of hormonal and physical changes in a woman's body (recurring approximately every 28 days) focused around the reproductive process. It involves egg maturation, uterus lining changes, and bleeding.

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Menstruation

The process of shedding the uterine lining (endometrium) if fertilization doesn't occur; leads to bleeding.

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Ovulation

Release of a mature egg cell (oocyte) from the ovary.

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Fertilization

Union of a sperm cell and egg cell to form a zygote.

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Implantation

Attachment of the fertilized egg (zygote) to the uterine wall.

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Puberty (Female)

The period of sexual maturation in females, characterized by the development of secondary sexual characteristics and the onset of menstruation.

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Menarche

The first menstrual bleeding during puberty.

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Menopause

The cessation of menstruation; usually occurs around age 45-55 (average 51)

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Contraception

Methods used to prevent pregnancy.

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Hormonal Fluctuations

Variations in hormone levels throughout the menstrual cycle.

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Micronutrients

Vitamins and minerals needed by the body in small amounts for various functions.

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Fat-soluble vitamins

Vitamins (A, D, E, K) that dissolve in fat and accumulate in the body.

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Water-soluble vitamins

Vitamins (C and B-complex) that dissolve in water and are not stored.

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Minerals

Inorganic elements present in soil/water, absorbed by plants or animals.

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Dietary Reference Intakes (DRIs)

Nutrient reference values from National Academy of Medicine (for vitamins and minerals) recommending amounts to meet age, gender, and specific roles.

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Multivitamins

Supplement providing vitamins and minerals; may be needed for inadequate dietary intake

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Vitamin Discovery Timeline

Vitamins were identified and their structures understood, leading to the development of treatments for deficiency diseases like scurvy, beriberi, and rickets. This process happened by 1948.

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Casimir Funk

A biochemist who coined the term "vitamin" in 1912, linking it to life-sustaining nitrogenous substances.

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Vitamin Therapy

The use of vitamins to treat or prevent vitamin deficiencies.

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Vitamin Source (Early 20th Century)

Vitamins were originally obtained only from food, before commercially-produced vitamin supplements became available in the 1930s.

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Food Fortification

The addition of specific nutrients, like iodine and folic acid, in the 1930s and onward to improve public health and prevent common deficiencies by the U.S. government.

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Commercial Vitamins

Vitamins made and sold commercially, which became available in the 1930s.

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Vitamin Supplements Availability

Wide availability of vitamins and multivitamins to the public in the 1950s.

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Vitamin Marketing

Promotion of vitamin supplements through marketing efforts, such as advertising vitamin D through cod liver oil.

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Micronutrients

Vitamins and minerals needed by the body in small amounts for many functions.

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Vitamins

Organic substances, either fat-soluble or water-soluble, required for various body functions.

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Fat-soluble vitamins

Vitamins (A, D, E, K) that dissolve in fat and can be stored in the body.

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Water-soluble vitamins

Vitamins (C and B-complex) that dissolve in water and are not stored.

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Minerals

Inorganic elements found in soil and water, crucial components of the body.

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Dietary Reference Intakes (DRIs)

Nutrient guidelines established by the National Academy of Medicine (National Academy of Medicine), providing recommended amounts of vitamins and minerals for different groups.

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Multivitamins

Supplements providing vitamins and minerals, used when dietary intake is insufficient.

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Vitamin Discovery

Understanding of Vitamins and Minerals, leading to treatments for diseases like scurvy, beriberi, etc.

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Vitamin Definition

Chemical compounds needed in small amounts for bodily functions; key players in preventing deficiency diseases.

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Vitamin Discovery Timeline

Scientists identified vitamins along with their roles, especially by 1948, leading to treatments for deficiency diseases.

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Casimir Funk

Biochemist who first called these crucial substances "vitamins" around 1912.

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Vitamin Sources (Early 20th Century)

Only from food before 1930s; later, commercial supplements became available.

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Vitamin Therapy

Using vitamins to treat or prevent deficiencies.

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Vitamin Discovery

Identifying and understanding the chemical structures of vitamins; helped find cures for deficiency diseases.

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Early Vitamin Supplements Availability

Vitamin supplements became commercially available in the 1930s.

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Government Fortification of Foods

U.S. government started adding essential nutrients to certain foods (e.g., iodine to salt), to prevent deficiencies.

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Multivitamins

Supplements containing multiple vitamins and minerals; beneficial for inadequate intake.

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Vitamins

Organic molecules essential for bodily functions, acting as cofactors for enzymatic reactions. They cannot be produced by the body and must be obtained from the diet.

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Minerals

Inorganic elements crucial for biochemical reactions, serving structural and functional roles, and involved as electrolytes.

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Water-soluble vitamins

Vitamins that dissolve in water and are not stored in the body; must be consumed regularly.

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Fat-soluble vitamins

Vitamins that dissolve in fat and can be stored in the body; less frequent consumption is adequate.

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Thiamine (Vitamin B1)

A water-soluble vitamin derived from a pyrimidine and thiazole, vital for various enzymatic reactions. Its active form is thiamine pyrophosphate (TPP).

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Thiamine Transporter 1 (THTR1)

A protein that facilitates thiamine uptake from the intestines.

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Thiamine Responsive Megaloblastic Anemia Syndrome (TRMA)

An autosomal recessive genetic disorder caused by mutations in the SLC19A2 gene, resulting in thiamine absorption problems and related health issues.

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Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)

An autosomal recessive disorder causing episodic encephalopathy triggered by illness, often responding to biotin and sometimes thiamine.

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SLC19A3 gene

Gene associated with thiamine uptake; mutations in this gene cause THMD2.

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Basal Ganglia Disease, Biotin-responsive (BBGD)

Another name for thiamine metabolism dysfunction syndrome 2 (THMD2).

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Wernicke encephalopathy

A brain disorder caused by severe thiamine deficiency; similar symptoms to THMD2.

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Thiamine

A B vitamin crucial for energy production and various metabolic processes.

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Thiamine pyrophosphate (TPP)

Active form of thiamine, acting as a coenzyme for various enzymes.

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TPK1 gene

Gene encoding thiamine pyrophosphokinase 1 (TPK1), converting thiamine to its active form (TPP).

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Pyruvate dehydrogenase complex (PDHc)

Enzyme complex requiring TPP for converting pyruvate to acetyl-CoA in cellular respiration.

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2-oxoglutarate dehydrogenase (OGDH)

Enzyme related to the TCA cycle involving TPP in metabolic pathways.

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Branched-chain ketoacid dehydrogenase (BCKD)

Enzyme system needing TPP to metabolize branched-chain amino acids.

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Thiamine pyrophosphokinase 1 (TPK1)

Enzyme converting thiamine to its active form, thiamine pyrophosphate.

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Beriberi

A thiamine deficiency disease characterized by various neurological and cardiovascular symptoms.

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Wernicke Syndrome

A severe thiamine deficiency condition, often seen in chronic alcoholics, inducing brain damage.

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Dietary Sources of Thiamine

Sources include yeasts, animal liver, whole grains, beans, pork, and fish; also UTP and CTP.

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Korsakoff encephalopathy

A chronic brain disorder, a severe form of thiamine deficiency, marked by problems with short-term memory.

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Wernicke-Korsakoff syndrome

A condition involving Wernicke encephalopathy (acute) progressing to Korsakoff encephalopathy (chronic).

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Thiamine deficiency

A lack of thiamine (vitamin B1), leading to various health problems, potentially irreversible in severe cases.

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Mammillary bodies

Small brain structures linked to memory function and part of the limbic system.

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Retrograde amnesia

Loss of memory for events before the onset of the amnesia-causing event.

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Transketolase

A thiamine-dependent enzyme involved in carbohydrate metabolism, specifically, for carbohydrate pathways.

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TKTL1 gene

One of two genes coding for an enzyme potentially linked to inherited Wernicke-Korsakoff syndrome, and linked to cancer behavior.

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SLC19A3 gene

Gene encoding a thiamine transporter crucial for cellular uptake of thiamine.

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Riboflavin

Vitamin B2, precursor to coenzymes FMN and FAD.

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Flavin mononucleotide (FMN)

Riboflavin-derived coenzyme involved in many metabolic processes.

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Flavoproteins

Enzymes needing FMN/FAD as co-factors involved in redox reactions.

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Riboflavin kinase

An ATP-dependent enzyme catalyzing the conversion of riboflavin to FMN.

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Brown-Vialetto-Van Laere syndrome 2

Progressive neurological disorder linked to mutations in the SLC52A2 gene.

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Riboflavin Deficiency Symptoms

Symptoms of riboflavin deficiency include eye irritation, mouth sores, skin problems, and general weakness.

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Riboflavin Decomposition

Riboflavin breaks down when exposed to light.

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Riboflavin Deficiency in Newborns

Newborns undergoing phototherapy for jaundice may need extra riboflavin.

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Niacin (Vitamin B3)

Niacin, a vitamin, is used to make NAD and NADP, essential molecules in the body.

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Niacin from Tryptophan

The body can make niacin from the amino acid tryptophan, but it's not very efficient.

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NAD+ and NADH

NAD+ and NADH are oxidized and reduced forms of the active niacin co-factor.

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Niacin Deficiency Symptoms

Niacin deficiency causes mouth sore/inflammation, skin rash, weight loss, diarrhea, mental issues.

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Pellagra

Severe niacin deficiency leading to serious symptoms.

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Nicotinic Acid and Cholesterol

High doses of nicotinic acid can lower cholesterol.

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Pantothenic Acid (Vitamin B5)

Pantothenic acid is used to make coenzyme A (CoA).

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Coenzyme A Synthesis

Five steps involved in making coenzyme A from pantothenate.

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Pantothenate Kinases

Enzymes that phosphorylate pantothenate in CoA synthesis.

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Pyruvate carboxylase (PC)

A multifunctional enzyme that catalyzes carboxylation reactions, forming propionyl-CoA into methylmalonyl-CoA.

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Propionyl-CoA carboxylase

An enzyme complex that converts propionyl-CoA to methylmalonyl-CoA, crucial for the metabolism of certain amino acids and fatty acids.

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3-Methylcrotonyl-CoA carboxylase

An enzyme that catalyzes the carboxylation of 3-methylcrotonyl-CoA, a step in leucine catabolism.

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Biotin

A water-soluble vitamin required as a cofactor for several carboxylase enzymes.

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Biotinidase deficiency (BTD)

An autosomal recessive disorder causing impaired biotin metabolism due to a deficiency in the biotinidase enzyme.

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Holocarboxylase synthetase deficiency

A genetic disorder resulting in impaired biotin activation and multiple carboxylase deficiency.

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PANK2 Enzyme Localization

PANK2 enzyme is uniquely located in the mitochondria.

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PANK2 Gene Location

The PANK2 gene resides on chromosome 20p13.

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PANK2 mRNA Variants

The PANK2 gene produces multiple mRNA versions through alternative splicing.

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PANK3 Gene Expression

PANK3 gene expression is strongest in the intestinal tract.

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PANK4 Gene's Exons

The PANK4 gene has 21 exons, encoding a longer protein.

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PANK4 Mutation & Cataracts

A PANK4 intron 4 mutation causes congenital posterior cataracts by affecting lens cell function.

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Phosphopantothenoylcysteine Synthetase

An enzyme that adds a reactive sulfhydryl group to 4′-phosphopantothenate.

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PPCS Gene Location

The PPCS gene is located on chromosome 1p34.2.

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4'-Phospho-N-pantothenoylcysteine (PPC)

The product of the PPCS reaction; a crucial intermediate in CoA synthesis.

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Coenzyme A Synthase (COASY) Role

COASY catalyzes the final steps in CoA synthesis using ATP.

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COASY Gene Location

The COASY gene is located on chromosome 17q21.2.

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Pantothenic Acid's Roles

Pantothenic acid is part of CoA and ACP, aiding carbohydrate, fat, and protein metabolism.

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Pantothenic Acid Deficiency Symptoms

Rare deficiency, symptoms include burning feet, skin issues, growth retardation, and digestive problems.

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Vitamin B6 Forms

Pyridoxal, pyridoxamine, and pyridoxine are the forms of vitamin B6.

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Pyridoxal Kinase Role

Enzyme converting vitamin B6 to its active form, pyridoxal phosphate (PLP).

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PLP's Role in Amino Acid Metabolism

PLP essential in amino acid synthesis and breakdown through transamination.

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PLP and Neurotransmitters

PLP is involved in the production of essential neurotransmitters.

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PLP and Heme Synthesis

PLP is used in the initial step of heme synthesis.

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Holocarboxylase synthetase deficiency

A genetic disorder that affects the body's ability to process certain nutrients, often leading to elevated levels of organic acids in the blood and urine.

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O-(3-hydroxyvaleryl)-L-carnitine

A specific organic acid found in elevated levels in the blood of newborns with holocarboxylase synthetase deficiency, detected via newborn screening.

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Elevated organic acids in urine

A diagnostic sign in patients with genetic metabolic diseases, like holocarboxylase synthetase deficiency, typically indicating an issue in breaking down certain substances.

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Tigylglycine

An N-acylglycine derived from glycine, with a specific chemical structure involving a 2-methylbut-2-enoyl group, often found elevated in urine with metabolic disorders.

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Cobalamin

Vitamin B12, a complex molecule with a corrin ring and cobalt ion crucial for various cellular processes.

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Cob(I)alamin

An oxidation state of cobalamin (vitamin B12) important for enzyme function.

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Haptocorrin

A protein that binds vitamin B12 in the stomach and protects it during transit to the small intestine.

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Intrinsic factor

A protein produced by the stomach that binds vitamin B12 in the small intestine, essential for its absorption.

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Transcobalamin II (TC)

A protein that transports vitamin B12 in the blood.

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Cubilin

A protein receptor in the intestines that binds vitamin B12, bound first to intrinsic factor, for absorption.

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Cubilin anchoring proteins

Proteins that connect cubilin to the cell membrane, facilitating its function in vitamin B12 absorption.

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Vitamin B6 requirement during pregnancy and lactation

Increases by approximately 0.6 mg/day.

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Vitamin B6 deficiency causes

Rare, often linked to overall B-complex deficiencies, but alcoholism and certain drugs (like isoniazid and penicillamine) can trigger them.

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Role of pyridoxal kinase deficiency

Reduces PLP synthesis, potentially leading to seizure disorders due to GABA synthesis reduction.

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Vitamin B6 deficiency anemia

Causes microcytic hypochromic anemia, similar to those from iron deficiency or heavy metal poisoning.

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Cystathionine enzymes (CBS, cystathionase)

Involved in methionine to cysteine conversion and require PLP (a form of B6).

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Homocysteinemia/uria from B6 deficiency

Blockage in the CBS reaction leads to elevated homocysteine levels.

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Symptoms of Vitamin B6 deficiency

Nervousness, insomnia, skin rashes, muscle control loss, anemia, mouth sores, weakness, dermatitis, cramps, hair loss, learning difficulties, and water retention.

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Biotin (vitamin B7/H)

A coenzyme for carboxylation, decarboxylation, and transcarboxylation reactions.

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Biocytin

Biotin bound to lysine residues in proteins.

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Biotinidase function

Releases biotin from biocytin, recycles biotin from enzymes.

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Biotin absorption mechanism

Absorbed from intestines via Na+-dependent transporter (SLC5A6).

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Biotin-requiring enzymes

Acetyl-CoA carboxylase (ACC), pyruvate carboxylase (PC), propionyl-CoA carboxylase (PCC), and 3-methylcrotonyl-CoA carboxylase (3MCC).

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ABC Enzymes

Acetyl-CoA carboxylase, pyruvate carboxylase, and propionyl-CoA carboxylase; requiring/using ATP, biotin, and CO2.

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Biotin-dependent carboxylating activities

Biotin carboxylase, carboxyltransferase, and biotin carboxyl carrier protein (BCCP).

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Holocarboxylase synthetase (HLCS)

Enzyme that incorporates biotin into biotin-requiring enzymes.

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Acetyl-CoA Carboxylase (ACC) Role

A cytosolic enzyme critical for fatty acid synthesis.

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Pyruvate Carboxylase (PC) Role

Mitochondrial enzyme initiating gluconeogenesis.

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Propionyl-CoA Carboxylase (PCC) Role

Mitochondrial enzyme involved in amino acid (VOMIT) metabolism and odd-numbered fatty acid oxidation.

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3-Methylcrotonyl-CoA Carboxylase Role

Mitochondrial enzyme involved in leucine metabolism.

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Vitamins

Organic molecules acting as cofactors for enzymatic reactions, cannot be synthesized by mammals & must come from diet.

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Minerals

Ions needed for biochemical reactions, both structural and functional roles.

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Thiamine (Vitamin B1)

Derived from pyrimidine and thiazole, essential coenzyme, absorbed in small intestine.

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SLC19A2 gene

Codes for thiamine transporter 1 (THTR1) which is important in absorbing thiamine in the intestines.

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Thiamine Responsive Megaloblastic Anemia (TRMA)/THMD1

Autosomal recessive disease due to SLC19A2 gene mutations showing megaloblastic anemia, diabetes, and sensorineural deafness.

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Water-soluble vitamins

Vitamins (C & B-complex) that dissolve in water and are not stored.

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Fat-soluble vitamins

Vitamins (A, D, E, K) that dissolve in fat and accumulate in the body.

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Dietary Reference Intakes (DRIs)

Nutrient reference values from National Academy of Medicine recommending amounts to meet age, gender, and specific roles.

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Multivitamins

Supplements combining a variety of vitamins & minerals; needed for inadequate dietary intake

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Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)

An autosomal recessive disorder causing episodic encephalopathy, often triggered by illness. Improvement seen with biotin and sometimes thiamine.

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THMD2 symptoms

Episodic encephalopathy (like Wernicke's encephalopathy), dysphagia, confusion, seizures, and external ophthalmoplegia, potentially leading to coma and death.

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Biotin Treatment in THMD2

Biotin treatment often improves THMD2, even though the cause is in thiamine transporter dysfunction. It may increase the expression of critical gene SLC19A3.

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SLC19A3 gene mutation

Mutations in this gene cause THMD2; affecting thiamine metabolism.

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SLC25A19 gene mutation

Mutations in this gene result in a severe microcephaly, often seen in Amish populations and leads to early death.

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Thiamine Pyrophosphate (TPP)

The active form of thiamine that acts as a vital coenzyme for many critical metabolic reactions.

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Thiamine Pyrophosphokinase 1 (TPK1)

Enzyme that converts thiamine to its active form, TPP, using phosphate donors like UTP with higher affinity.

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TPP's function in metabolic pathways

Acts as a coenzyme for the pyruvate dehydrogenase complex, 2-oxoglutarate dehydrogenase, and branched-chain ketoacid dehydrogenase, crucial for energy production.

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Thiamine deficiency symptoms (early)

Constipation, reduced appetite, and nausea, followed by mental depression, peripheral neuropathy, and fatigue.

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Thiamine deficiency symptoms (advanced)

Ataxia, mental confusion, and nystagmus, with potential cardiovascular and muscle problems.

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Vertical nystagmus

Spontaneous up or down movement of the eyeballs, mainly associated with thiamine deficiency or certain intoxications.

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Beriberi (dry & wet)

Dry beriberi (Wernicke syndrome): a chronic thiamine deficiency primarily affecting the nervous system.Wet beriberi results from prolonged deficiency and affects the heart, resulting in dilated cardiomyopathy, from fluid retention and energy loss.

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Dietary Thiamine Sources

Yeasts, animal liver, whole grains, legumes, and some fish and pork.

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High carbohydrate diet and thiamine

A high carbohydrate diet requires an increased thiamine intake to meet metabolic needs.

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Korsakoff encephalopathy

A chronic condition of impaired short-term memory resulting from severe thiamine deficiency, often affecting the mammillary bodies in the brain.

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Wernicke-Korsakoff syndrome (WKS)

A severe thiamine deficiency characterized by an acute encephalopathy (Wernicke encephalopathy) and then progressing to chronic short-term memory impairment (Korsakoff psychosis).

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Mammillary bodies

Small structures in the limbic system, part of the Papez circuit, essential for memory function.

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Papez circuit

The hippocampal-mammillo-thalamo-cortical pathway, involved in memory processes and connecting limbic structures to the cerebral cortex.

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Thiamine deficiency

Lack of thiamine, leading to various diseases like beriberi, Wernicke encephalopathy, and potentially irreversible Korsakoff syndrome.

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Transketolase

An enzyme involved in carbohydrate metabolism, whose abnormality was once thought to be a factor in inherited Wernicke-Korsakoff syndrome.

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TKTL1

A transketolase-related enzyme, thought to be linked to inherited Wernicke-Korsakoff susceptibility; however, it does not catalyze a transketolase reaction.

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Flavin mononucleotide (FMN)

A coenzyme derived from riboflavin (B2), used by various flavoproteins in redox reactions.

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Flavin adenine dinucleotide (FAD)

A coenzyme that is derived from FMN

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Riboflavin (B2)

A water-soluble vitamin, essential for forming coenzymes FMN & FAD, involved in various redox reactions.

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Riboflavin deficiency

Lack of riboflavin (B2), potentially causing rare health issues, often visible in chronic alcoholics due to poor dietary habits.

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Riboflavin deficiency symptoms

Symptoms include itchy/burning eyes, mouth sores, bloodshot eyes, tongue inflammation, skin issues, tremors, sluggishness, and light sensitivity.

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Riboflavin decomposition

Riboflavin breaks down when exposed to light.

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Riboflavin deficiency in newborns

Newborns undergoing phototherapy for jaundice may develop riboflavin deficiencies due to light exposure.

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Niacin

Vitamin B3, a coenzyme involved in many bodily functions.

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NAD/NADP

Active forms of vitamin B3, critical coenzymes in many biochemical processes.

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Niacin synthesis from tryptophan

Niacin can be created from the amino acid tryptophan, but this process has low efficiency.

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Niacin deficiency symptoms

Symptoms can include inflammation of the tongue, skin issues, weight loss, diarrhea, depression, and more severe types of dementia.

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Pellagra

A disease caused by severe niacin deficiency.

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Niacin and cholesterol

Large doses of nicotinic acid (a form of niacin) can lower cholesterol.

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HCA2 receptor

A receptor activated by nicotinic acid, which plays a role in reducing fat mobilization.

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Pantothenic acid

Vitamin B5, involved in coenzyme A synthesis.

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Coenzyme A (CoA)

A vital molecule in many metabolic processes.

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Pantothenate kinase

Enzymes responsible for phosphorylation of pantothenate, a key step in CoA synthesis.

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Pyruvate Carboxylase (PC)

A multifunctional enzyme that catalyzes the carboxylation of pyruvate to oxaloacetate, crucial for gluconeogenesis and other metabolic processes.

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Propionyl-CoA Carboxylase

A heterododecameric enzyme converting propionyl-CoA to methylmalonyl-CoA, part of the metabolism of branched-chain amino acids and odd carbon-chain fatty acids.

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3-Methylcrotonyl-CoA Carboxylase

An enzyme that catalyzes the carboxylation of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA in leucine catabolism.

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Biotin

A water-soluble vitamin essential for carboxylase enzyme function, crucial for numerous metabolic reactions

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Biotinidase Deficiency

An inherited disorder causing impaired biotinidase enzyme activity, leading to biotin deficiency and various health problems, including developmental delays.

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Holocarboxylase Synthetase Deficiency

An inherited disorder affecting holocarboxylase synthetase enzyme, resulting in multiple carboxylase deficiencies, leading to severe metabolic problems.

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PC Gene Location

Located on chromosome 11q13.2

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Propionyl-CoA carboxylase Subunits

Hetero-dodecameric enzyme composed of α6β6 subunits

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3-Methylcrotonyl-CoA carboxylase subunits

Hetero-dodecameric enzyme (α6β6).

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Vitamin B6 Requirement during Pregnancy/Lactation

Increases approximately 0.6 mg/day during pregnancy and lactation.

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PANK2 Enzyme Location

The PANK2 enzyme is found in the mitochondria.

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PANK2 Gene Location

The PANK2 gene is on chromosome 20p13.

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Vitamin B6 Deficiency Causes

Rare, often linked to overall B-complex deficiencies, alcoholism, or drug interactions (e.g., isoniazid, penicillamine).

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PANK2 mRNA Splising

The PANK2 gene creates seven different types of mRNA molecules via alternative splicing.

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Vitamin B6 Deficiency Impact on Heme

Leads to microcytic hypochromic anemias, similar to iron deficiency or heavy metal poisoning.

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PANK3 Gene Expression

PANK3 gene expression is highest in the intestinal tract.

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Vitamin B6 Metabolism Role

Critical for methionine to cysteine conversion, impacting homocysteine levels and potentially leading to homocysteinemia/uria.

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PANK3 Gene Chromosome

The PANK3 gene is on chromosome 5q34.

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Biotin Roles for Enzymes

Cofactor for carboxylation, decarboxylation or transcarboxylation, vital for various metabolic processes in living organisms.

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Biotin Transport from Intestines

Absorbed through Na+-dependent vitamin transporter (SLC5A6), shared transport pathway with pantothenate (vitamin B5).

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PANK4 Gene Expression

The PANK4 gene is most active in skeletal muscle.

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PANK4 Gene Chromosome

The PANK4 gene is on chromosome 1p36.32.

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Biotin-Dependent Carboxylating Enzymes

Acetyl-CoA carboxylase (ACC), pyruvate carboxylase (PC), propionyl-CoA carboxylase (PCC), and 3-methylcrotonyl-CoA carboxylase (3-MCC).

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Biotin Incorporation into Enzymes

Holocarboxylase synthetase (HLCS) incorporates biotin into biotin-requiring enzymes through a two-step process involving ATP.

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PANK4 Mutation Impact

A PANK4 gene mutation in intron 4 is linked to cataracts, suggesting the protein affects lens cell function.

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PPCS Gene Encoding

The PPCS gene creates the enzyme phosphopantothenoylcysteine synthetase.

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Acetyl-CoA Carboxylase (ACC) Role

Cytosolic enzyme involved in fatty acid synthesis, critically catalyzing a rate-limiting step.

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PPCS Gene Location

The PPCS gene is on chromosome 1p34.2.

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Pyruvate Carboxylase (PC) Role

Mitochondrial enzyme initiating gluconeogenesis, crucial for glucose production.

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Propionyl-CoA Carboxylase (PCC) Role

Mitochondrial enzyme metabolizing several amino acids (VOMIT pathway: valine, odd-chain fats, methionine, isoleucine, threonine).

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PPC Product

The reaction product of phosphopantothenoylcysteine synthetase is called 4′-phospho-N-pantothenoylcysteine (PPC).

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3-Methylcrotonyl-CoA Carboxylase (3MCC) Role

Mitochondrial enzyme in leucine catabolism (breakdown).

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PPCDC Enzyme Function

The phosphopantothenoylcysteine decarboxylase (PPCDC) enzyme removes a carboxyl group from PPC.

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PPCDC Gene Location

The PPCDC gene is located on chromosome 15q24.2.

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4'-Phosphopantetheine to CoA

4'-Phosphopantetheine is converted to coenzyme A by coenzyme A synthase.

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COASY Gene Location

The gene encoding coenzyme A synthase (COASY) is on chromosome 17q21.2.

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Pantothenic Acid in ACP

Pantothenic acid is part of the acyl carrier protein (ACP) in fatty acid synthase.

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Pantothenate Metabolism

Pantothenate is involved in carbohydrate, fat, and protein metabolism.

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Holocarboxylase synthetase deficiency

A genetic disorder characterized by elevated O-(3-hydroxyvaleryl)-L-carnitine in the blood.

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Urine organic acid analysis (holocarboxylase synthetase deficient)

Reveals elevated levels of specific organic acids (lactate, 3-hydroxyisovaleric acid, 3-hydroxypropionic acid, 3-methylcrotonic acid, methylcitric acid, and tiglylglycine) in the urine.

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Tiglylglycine

An N-acylglycine formed from glycine where the amine hydrogen is substituted by a tiglyl group.

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Cobalamin

Vitamin B12; a complex molecule with a corrin ring and a central cobalt ion.

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Cobalamin oxidation states

Cobalamin exists in +1 (cob(I)alamin), +2 (cob(II)alamin), and +3 (cob(III)alamin) oxidation states.

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Cobalamin synthesis

Synthesized only by microorganisms.

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Cobalamin storage

Found in animal livers, bound to protein (like methycobalamin or 5'-deoxyadenosylcobalamin).

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Bioavailable vitamin B12 sources

Found in cow's milk and soybeans.

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Vitamin B12 activation

Must be released from binding proteins.

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Vitamin B12 stomach release

Pepsin releases B12 during digestion.

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Haptocorrin (transcobalamin I)

Endogenous protein that binds released cobalamin.

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Haptocorrin's gene location

TCN1 Gene on chromosome 11q12.1

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Intrinsic factor (IF)

Glycoprotein binding cobalamin in alkaline environment of small intestine.

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Transcobalamin II (TC)

The main protein for vitamin B12 transport in blood.

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Cubilin

A peripheral membrane protein receptor for IF-B12 complexes in the distal ileum and kidney.

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Cubilin anchoring protein

Proteins like amnion-associated transmembrane protein (AMN) and LRP2 help cubilin bind.

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Study Notes

Introduction

  • The reproductive system is essential for the continuation of the human species.
  • The reproductive system is responsible for physical and functional differences between males and females, and influences their behavior.
  • The reproductive system is not essential for individual survival.
  • The primary function of the reproductive system is the production of gametes.

Gamete Formation

  • Gametes are reproductive cells.
  • Sperm cells are male gametes.
  • Oocytes or egg cells are female gametes.
  • Gametes are produced through meiosis.
  • Each sperm and egg cell has 23 chromosomes.

Terminology

  • Fertilization: The union of sperm and egg cells.
  • Zygote: A fertilized egg cell.
  • Embryo: A fertilized egg that has developed for 3 to 14 days.

Male Reproductive System

  • Components:
    • Testes: Produce sperm cells.
    • Epididymis: Where sperm cells mature and develop the ability to swim.
    • Ductus Deferens: Connects the epididymis to the seminal vesicles.
    • Urethra: Passageway for urine and reproductive fluids.
    • Accessory Glands:
      • Seminal Vesicles: Produce fructose and prostaglandins.
      • Prostate Gland: Produces enzymes to liquefy semen and neutralizes vaginal pH.
      • Bulbourethral Glands: Secrete mucus that neutralizes vaginal pH.
    • Supporting Structures:
      • Scrotum: Encloses the testes.
      • Penis: Transfers sperm to the female.
  • Scrotum:
    • Contains the testes.
    • Dartos Muscle: Controls the temperature of the scrotum to regulate sperm development.
    • Cremaster Muscles: Extensions of the abdominal muscles that pull the testes closer to the body.
  • Testes:
    • Produce sperm cells.
    • Seminiferous Tubules: Located within the testes, where sperm cells are produced.
    • Interstitial Cells: Secrete testosterone.
    • Germ Cells: Precursor cells to sperm cells.
    • Sustentacular Cells: Nourish germ cells and produce hormones.
  • Spermatogenesis:
    • The process of sperm cell formation.
    • Begins during puberty.
    • Steps:
      • Germ Cells: Undifferentiated male germ cells.
      • Spermatogonia: Undifferentiated male germ cells.
      • Primary Spermatocytes: Cells that undergo meiosis.
      • Secondary Spermatocytes: Haploid cells.
      • Spermatids: Mature sperm cells.
      • Sperm Cells: Mature gametes.
  • Sperm Cell Structure:
    • Head: Contains the acrosome, nucleus, and centriole.
    • Midpiece: Packed with mitochondria, providing energy for movement.
    • Tail: Flagellum that propels the sperm cell.
  • Epididymis:
    • Thread-like tube connected to the seminiferous tubules.
    • Site of sperm cell maturation and development of swimming ability.
  • Ductus Deferens:
    • A large tube that connects the epididymis to the seminal vesicles.
    • Site of vasectomy, a form of male sterilization.
  • Seminal Vesicles:
    • Sack-shaped glands connected to the ductus deferens.
    • Produce fructose (energy source for sperm) and prostaglandins (decrease mucus thickness in the cervix and uterine tubes).
  • Prostate Gland:
    • Surrounds the urethra.
    • Secretes enzymes that liquefy semen and neutralize the acidic pH of the vagina.
  • Bulbourethral Glands:
    • Located near the base of the prostate gland.
    • Secrete mucus that neutralizes the acidic pH of the vagina.
  • Semen:
    • A mixture of sperm cells and secretions from the accessory glands.
    • Provides a transport medium, protection, and nutrients for the sperm cells.

Male Hormones

  • Gonadotropin-releasing hormone (GnRH):
    • Produced in the hypothalamus.
    • Stimulates the release of Luteinizing hormone (LH) and Follicle stimulating hormone (FSH) from the anterior pituitary gland.
  • Luteinizing hormone (LH):
    • Stimulates testosterone production in the testes.
  • Follicle stimulating hormone (FSH):
    • Stimulates spermatogenesis (sperm cell production).
  • Testosterone:
    • The primary male sex hormone.
    • Produced by the interstitial cells of the testes.
    • Responsible for male sexual development and characteristics.
  • Inhibin:
    • Produced by sustentacular cells in the seminiferous tubules.
    • Inhibits FSH production, regulating sperm cell production.

Female Reproductive System

  • Components:
    • Ovaries: Produce oocytes and sex hormones.
    • Uterine Tubes: Where fertilization occurs.
    • Uterus: Receives and nourishes a fertilized egg.
    • Vagina: Passageway for the penis during intercourse and for the baby during childbirth.
    • Vulva: External female genitalia.
    • Mammary Glands: Produce milk.
  • Ovaries:
    • Primary female reproductive organs.
    • Located on either side of the uterus.
    • Ovarian Follicles: Contain oocytes.
  • Oogenesis:
    • The production of oocytes.
    • Begins before birth.
    • Steps:
      • Oogonia: Undifferentiated female germ cells.
      • Primary Oocytes: Cells that undergo meiosis.
      • Secondary Oocytes: Haploid cells.
      • Oocytes: Mature egg cells.
  • Uterine Tubes:
    • Also called fallopian tubes.
    • Connect the ovaries to the uterus.
    • Site of fertilization.
    • Fimbria: Finger-like projections at the end of the fallopian tubes that sweep the oocyte into the tube.
    • Ampulla: Widest part of the fallopian tube, where fertilization usually occurs.
  • Uterus:
    • Pear-shaped organ located in the pelvic cavity.
    • Site of implantation and development of the embryo.
    • Fundus: Rounded top portion of the uterus.
    • Body: Largest portion of the uterus.
    • Cervix: Narrow neck of the uterus that connects to the vagina.
  • Uterine Wall Layers:
    • Perimetrium: Outermost layer.
    • Myometrium: Middle layer composed of smooth muscle.
    • Endometrium: Innermost layer; discarded each cycle during menstruation.
  • Vagina:
    • Muscular tube extending from the cervix to the outside of the body.
    • Passageway for the penis during intercourse and for the baby during childbirth.
    • Vulva: External female genitalia.
    • Mons Pubis: Fatty layer of skin over the pubic bone.
    • Labia Majora: Outer fleshy folds around the vaginal opening.
    • Labia Minora: Inner folds of skin that surround the vaginal opening.
    • Clitoris: Small, sensitive, erectile organ located at the top of the vulva.
    • Hymen: Thin membrane that partially covers the vaginal opening.
  • Mammary Glands:
    • Located in the breasts.
    • Produce milk after childbirth.
  • Menstrual Cycle:
    • Monthly cycle of hormonal changes that prepares the uterus for a potential pregnancy.
    • Stages:
      • Menstruation: Shedding of the endometrium.
      • Follicular Phase: Maturation of an ovarian follicle.
      • Ovulation: Release of a mature egg from the ovary.
      • Luteal Phase: Formation and degradation of the corpus luteum.
  • Female Hormones:
    • Follicle stimulating hormone (FSH): Stimulates follicle development and the production of estrogen.
    • Luteinizing hormone (LH): Triggers ovulation and the production of progesterone.
    • Estrogen: Responsible for female sexual development and characteristics.
    • Progesterone: Prepares the uterus for implantation.
  • Hormonal Regulation of the Menstrual Cycle:
    • The hypothalamus secretes GnRH, which stimulates the anterior pituitary gland to release FSH and LH.
    • FSH stimulates follicle growth and the production of estrogen.
    • Estrogen levels rise, causing a surge in LH release.
    • LH triggers ovulation.
    • The corpus luteum forms and produces progesterone, which prepares the uterus for implantation.
    • If fertilization does not occur, the corpus luteum degrades, progesterone levels drop, and menstruation occurs.

Comparison of Male and Female Reproductive Systems

Characteristic Male Female
Primary Reproductive Organ Testes Ovaries
Gamete Sperm Oocyte
Gamete Production Spermatogenesis Oogenesis
Start of Gamete Production Puberty Before Birth
Site of Gamete Production Seminiferous Tubules Ovarian Follicles
Hormone Responsible for Gamete Production FSH FSH
Primary Sex Hormone Testosterone Estrogen
Secondary Sex Characteristics Development of facial hair, deepening of voice, muscular growth Development of breasts, widening of hips, menstrual cycles
Sterilization Vasectomy (cutting the ductus deferens) Tubal ligation (tying the fallopian tubes)

External Genitalia

  • The entrance to the vagina in females is analogous to the scrotum in males.
  • The labia minora are thinner folds of skin located inside the labia majora, surrounding the vaginal opening.
  • The clitoris, a small erectile structure in females, is equivalent to the penis in males.

Mammary Glands

  • Mammary glands are located in the breasts and are responsible for milk production.
  • Prolactin, a hormone produced by the endocrine system, stimulates milk production.
  • Puberty in females begins between the ages of 11 and 13 and is typically complete by 16.
  • Menarche refers to the first menstrual bleeding experienced during puberty.

Hormonal Changes During Puberty

  • Increased levels of estrogen and progesterone are secreted by the ovaries during puberty.
  • GnRH (Gonadotropin-releasing hormone) from the hypothalamus stimulates the production of LH (luteinizing hormone) and FSH (follicle-stimulating hormone) in both males and females.
  • LH and FSH are produced in the anterior pituitary gland.

Hormonal Functions in Females

  • LH triggers ovulation, releasing the egg from the ovary.
  • FSH helps the follicles in the ovaries develop.
  • Estrogen is essential for the proliferation of endometrial cells, mammary gland development, and breast growth.
  • Estrogen also controls the secretion of FSH and LH.
  • Progesterone plays a crucial role in the enlargement of endometrial cells and maintaining pregnancy.
  • Progesterone also contributes to mammary gland development, but compared to estrogen, its role is smaller.
  • Progesterone can control FSH, LH, and estrogen secretion.

The Menstrual Cycle

  • The menstrual cycle represents a series of changes occurring in sexually mature, non-pregnant females.
  • Menstruation, the shedding of the endometrium from the uterus, is just one part of this cycle.
  • The menstrual cycle typically lasts 28 days.
  • Menstruation occurs on average between days 1 and 5 of the cycle, when the endometrium is shed, resulting in bleeding.
  • During menstruation, both estrogen and progesterone levels are low.

Menstrual Cycle Stages

  • Proliferative Stage (Days 6-13): The endometrium rebuilds, estrogen levels increase, and progesterone levels remain low.
  • Ovulation Stage (Day 14): LH triggers the release of the egg (ovum) from the ovary. The egg travels to the fallopian tubes aided by the fimbriae. Estrogen levels are high, and progesterone levels begin to increase.
  • Secretory Stage (Days 15-28): The endometrium prepares for implantation. Progesterone levels remain high, while estrogen levels decrease.

Menopause

  • During menopause, the ovaries produce significantly fewer hormones, and the number of follicles decreases.
  • This leads to irregular menstrual cycles and ovulation.

Contraception

  • Contraception refers to methods used to prevent pregnancy.
  • Six main types are categorized:
    • Long-acting reversible contraception
    • Barrier methods
    • Sterilization (tubal ligation for females, vasectomy for males)
    • Hormonal methods
    • Fertility awareness
    • Emergency contraception (Plan B or morning-after pills)

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Explore the key concepts of the human reproductive system, including gamete formation, terminology related to fertilization, and the male reproductive system components. Understand the physiological differences between males and females and their roles in reproduction.

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