Human Reproductive System: Hormonal Control and Disorders
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Questions and Answers

Which is a clinical feature of hypogonadism before puberty?

  • High-pitched voice
  • Ambiguous genitalia
  • Skeletal abnormalities (correct)
  • Soft and mushy testicles

    • Which of the following is NOT a cause of hypogonadism?

  • Trauma
  • Irradiation
  • Excessive exercise (correct)
  • Chromosomal abnormalities

    • What indicates gonadal dysfunction?

  • Low testosterone with high gonadotrophins (correct)
  • High testosterone with high gonadotrophins
  • Normal testosterone with low gonadotrophins
  • Low testosterone with low gonadotrophins

    • What is a possible outcome of androgen insensitivity states?

    <p>Elevations of both testosterone and gonadotrophins</p> Signup and view all the answers

    What test is most important for diagnosing hypogonadism?

    <p>Serum testosterone</p> Signup and view all the answers

    Which of the following is a characteristic feature of Klinefelter's syndrome?

    <p>Gynaecomastia</p> Signup and view all the answers

    What age defines early sexual development in terms of sexual precocity?

    <p>Before age 9 years</p> Signup and view all the answers

    Which of the following is NOT a gonadotrophin-independent cause of virilisation?

    <p>HCG-secreting tumours</p> Signup and view all the answers

    In the GnRH stimulation test, what is the expected normal response for LH?

    <p>Maximum LH of 2.5 times the basal level</p> Signup and view all the answers

    What therapy is used for Klinefelter's syndrome?

    <p>Androgen replacement</p> Signup and view all the answers

    Which of the following is a cause of precocious puberty?

    <p>Ovarian tumors</p> Signup and view all the answers

    Turner’s syndrome is characterized by which karyotype?

    <p>45 (XO)</p> Signup and view all the answers

    What is the prevalence of Turner’s syndrome?

    <p>1:2500-3000</p> Signup and view all the answers

    Which clinical feature is associated with Testicular Feminisation (AIS)?

    <p>Female phenotype in complete AIS</p> Signup and view all the answers

    What is the approximate prevalence of Testicular Feminisation (AIS) in live births?

    <p>1 in 20,000</p> Signup and view all the answers

    Which of the following is a test used to assess female reproductive function?

    <p>Progesterone</p> Signup and view all the answers

    Which condition is NOT a pituitary or hypothalamic cause of abnormal menstruation and infertility?

    <p>Polycystic ovary syndrome</p> Signup and view all the answers

    Which of the following is NOT related to precocious puberty?

    <p>Menarche by age 12</p> Signup and view all the answers

    Which hormone is primarily responsible for the deepening of the voice in males?

    <p>Testosterone</p> Signup and view all the answers

    Which gland in the male reproductive system is responsible for secreting testosterone?

    <p>Testes</p> Signup and view all the answers

    Which cells in the testes are directly responsible for the production of sperm?

    <p>Spermatogonium</p> Signup and view all the answers

    Which of the following is NOT a function of testosterone?

    <p>Regulation of menstrual cycle</p> Signup and view all the answers

    The negative feedback mechanism in male hormonal control involves which of the following hormones?

    <p>Testosterone and Inhibin</p> Signup and view all the answers

    Which of the following is a possible clinical presentation of male gonadal dysfunction in adult males?

    <p>Erectile Dysfunction</p> Signup and view all the answers

    What are Leydig cells primarily responsible for?

    <p>Secretion of testosterone</p> Signup and view all the answers

    Which structure in the male reproductive system is responsible for storing and maturing sperm cells?

    <p>Epididymis</p> Signup and view all the answers

    Which clinical feature is associated with Polycystic Ovary Syndrome (PCOS)?

    <p>Bitemporal hair loss</p> Signup and view all the answers

    What is a diagnostic criteria for PCOS?

    <p>Low SHBG</p> Signup and view all the answers

    What can result from an androgen secreting tumour?

    <p>Hirsutism</p> Signup and view all the answers

    What condition is associated with high plasma 17 hydroxy progesterone levels?

    <p>Congenital Adrenal Hyperplasia</p> Signup and view all the answers

    Which of the following is characteristic of hypothalamic (secondary) amenorrhoea?

    <p>Underweight individuals</p> Signup and view all the answers

    Which feature is commonly seen in virgins and is associated with male secondary sexual characteristics?

    <p>Virilism</p> Signup and view all the answers

    Which condition is part of secondary ovarian failure?

    <p>Exercise</p> Signup and view all the answers

    What is a treatment for congenital adrenal hyperplasia (CAH)?

    <p>Glucocorticoid replacement therapy</p> Signup and view all the answers

    Which hormone is responsible for stimulating follicular growth in the ovaries?

    <p>FSH</p> Signup and view all the answers

    What condition is characterized by the presence of multiple cysts in the ovaries?

    <p>Polycystic Ovary Syndrome</p> Signup and view all the answers

    What hormone results in the formation of a corpus luteum?

    <p>LH</p> Signup and view all the answers

    Which of the following is a clinical presentation of female gonadal dysfunction?

    <p>Infertility</p> Signup and view all the answers

    Which hormone inhibits FSH and LH for most of the menstrual cycle?

    <p>Estrogen</p> Signup and view all the answers

    Which clinical presentation is associated with excessive male-pattern hair growth in females?

    <p>Virilism</p> Signup and view all the answers

    What role does progesterone play in the female reproductive system?

    <p>Thickens uterine lining</p> Signup and view all the answers

    Which of the following is NOT a disorder associated with female gonadal dysfunction?

    <p>Hypertension</p> Signup and view all the answers

    Study Notes

    Male Gonadal Hormone

    Testosterone Functions

    • Embryologic male genital differentiation
    • Maturation of the external genitals
    • Skeletal muscle growth
    • Deepening of the voice
    • Epiphyseal cartilage growth during puberty
    • Male hair growth and distribution
    • Stimulation of sebaceous glands
    • Male social behavior, libido

    Testes

    • Components:
      • Prostate gland
      • Urethra
      • Erectile tissue
      • Prepuce
      • Glans penis
      • Seminiferous tubules
      • Testis
      • Head of epididymis
      • Tail of epididymis
      • Urinary bladder
      • Ampulla
      • Seminal vesicle
      • Ejaculatory duct
      • Bulbourethral gland
      • Vas deferens
      • Epididymis
      • Scrotum
      • Leydig cells (interstitial cells)
      • Sertoli cells
      • Spermatogonium
      • Spermatids
      • Spermatozoa
      • Primary spermatocyte
      • Secondary spermatocyte

    Male Sexual Function

    Hormonal Control in the Male

    • Integration of metabolic signals
    • Higher centers:
      • Hypothalamus
        • GnRH
      • Pituitary
        • LH, FSH
      • Testes
        • Spermatogenesis
        • Leydig cell function
    • Neuronal input
    • Negative feedback (positive feedback)
      • Testosterone, inhibin

    Puberty

    • LH, FSH
    • Testosterone

    The 'Andropause'

    Male Gonadal Dysfunction

    • Causes:
      • Hypothalamic origin
      • Pituitary origin
      • Testicular origin
    • Clinical Presentation in Adult Males:
      • Infertility
      • Erectile dysfunction
      • Loss of libido
      • Gynaecomastia
    • Common problems:
      • Chronic renal failure
      • Orchitis
      • Drugs
      • Cancer of the testis

    Male Hypogonadism

    Clinical Features

    • Depends on the age of onset
    • Hypogonadism in the second to third month of fetal life results in ambiguous genitalia
    • Hypogonadism before puberty results in failure of secondary sexual development
    • Psychological effects:
      • Decreased aggression
      • Decreased activity
      • Decreased cognition
      • Decreased emotion
      • Decreased libido and impotence
    • Defective spermatogenesis (low intratesticular testosterone)
    • Decreased muscle mass with diminished muscle strength and endurance
    • High-pitched voice due to the failure of thickening and maturation of the vocal cords
    • Infantile genitalia

    Causes

    • Trauma (and surgery)
    • Irradiation
    • Drugs (alkylating agents, antiandrogens, spironolactone)
    • Infection (viral, Syphilis, Leprosy, TB)
    • Inflammation (autoimmunity)
    • Infiltration (sarcoidosis, haemochromatosis)
    • Chromosomal abnormalities
    • Undescended testes and Varicocele
    • Systemic illness, paraplegia, renal failure, and hepatic cirrhosis

    Diagnosis

    • Most important tests:
      • Serum testosterone
      • FSH
      • LH
      • SHBG
    • Serum prolactin and estradiol levels may be useful
    • Patterns:
      • Low testosterone with high gonadotrophins indicate gonadal dysfunction
      • Low testosterone with low gonadotrophins indicate pituitary/hypothalamic dysfunction
      • Hyperprolactinaemia may result in the suppression of testosterone secretion

    Sexual Precocity

    • Early sexual development before age 9 years caused by high androgens
    • Virilisation without spermatogenesis
    • Gonadotrophin-independent:
      • Leydig cell tumour or hyperplasia
      • CAH
      • Adrenal tumour
      • Androgen administration
    • Gonadotrophin-dependent:
      • Idiopathic
      • HCG secreting tumours
      • CNS disorders
      • Tumours
      • Infections
      • Injuries

    Test of Pituitary Function

    • Intravenous injection of 100ug GnRH
    • LH and FSH measured at 15, 30, 45, and 60 minutes post-injection
    • Normal response:
      • Maximum LH of 2.5 times the basal level
      • Maximum FSH of 2 times the basal level

    Gonadotrophin Releasing Hormone

    • Stimulates secretion of LH and FSH

    Klinefelter's Syndrome

    Clinical Features

    • Feminine body habitus
    • Lack of body hair
    • Gynaecomastia
    • Long arms
    • Sparse pubic hair
    • Small testicles
    • Tall stature, long legs

    Causes

    • Presence of an extra X chromosome, resulting in a 47XXY karyotype instead of the normal male karyotype (46XY)

    Treatment

    • Therapy consists of androgen replacement

    Diagnosis

    • Elevated levels of gonadotrophins
    • Reduced serum testosterone
    • Buccal Smear
    • Karyotyping may be done on bone marrow, amniotic fluid, foetal cells, skin, solid tumours, or blood lymphocytes

    Precocious Puberty

    • Early development of secondary sexual characteristics and menstrual cycle
    • Causes:
      • Idiopathic
      • Brain disorders (tumors and infections)
      • Ovarian (cysts and tumors)
    • Adrenarche: age 9-10 years
    • Thelarche (breast development)
    • Menarche: by age 15 years (95% of girls)

    Chromosomal Disorders

    Turner's Syndrome

    • Karyotype: 45 (XO)
    • Incidence: 1:2500-3000
    • Features:
      • Lymphoedema
      • Short stature
      • Hypogonadism
      • Low-set ears
      • Webbed neck
      • Skeletal abnormalities
      • Heart murmur

    Testicular Feminisation (AIS)

    • XY chromosome (male genotype), androgen insensitivity syndrome (AIS)
    • Causes:
      • Various genetic mutations on the X chromosome
      • 1 in 20,000 live births
    • Types:
      • Complete AIS: female phenotype
      • Incomplete AIS: varying degree of sexual ambiguity

    Tests for Female Reproductive Function

    • Gonadotrophins: LH and FSH
    • Oestradiol
    • Progesterone
    • Prolactin
    • Human Chorionic Gonadotrophins
    • Androgens:
      • Testosterone
      • Androstenedione
    • Dehydroepiandrosterone (DHEA and DHEAS)
    • 17 hydroxyprogesterone
    • Sex Hormone Binding Globulin (SHBG)
    • Thyroid (T4, TSH); Cortisol; Growth Hormone

    Polycystic Ovary Syndrome (PCOS)

    Clinical Features

    • Polycystic ovary syndrome
    • Bitemporal hair loss
    • Acanthosis nigricans
    • Hirsutism
    • Multiple cysts in the ovary
    • Irregular menstrual cycle
    • Acne
    • Hirsutism
    • Obesity

    Diagnosis

    • Clinical features
    • Ultrasound scan
    • Low SHBG
    • High LH, low FSH
    • High serum testosterone/FAI (free androgen index)
    • High prolactin (will block the effect of LH & FSH on ovary)

    Secondary Amenorrhoea (non-pregnant)

    Primary Ovarian Failure

    • Premature menopause
    • Radiation/chemotherapy
    • Post-infection

    Secondary Ovarian Failure

    • Hypothalamic/pituitary tumours
    • Functional disorders
    • Weight loss/anorexia nervosa
    • Exercise
    • Psychogenic
    • General illness

    Genital Tract Disorders

    • Polycystic Ovary Syndrome

    Ovarian Tumours

    • Oestrogen or androgen-producing tumours (very rare)

    Virilism and Hirsutism

    • Virilism: female disorder involving development of male secondary sexual characteristics
    • Hirsutism: common female complaint characterised by increased body hair with male pattern distribution
    • Causes:
      • Androgen secreting tumour
      • Congenital Adrenal Hyperplasia (CAH)
      • Drugs
      • PCOS

    Primary Amenorrhoea

    Normogonadotrophic (normal LH and FSH)

    • Anatomic defects
    • Congenital adrenal hyperplasia (CAH)

    Hypogonadotrophic (low LH and FSH)

    • Hypopituitarism/hypothalamic disease
    • Chronic illness
    • Psychogenic
    • Congenital syndromes (e.g., Prader Willi and Laurence Moon Biedl)

    Hypergonadotrophic (raised LH and FSH)

    • Turner's syndrome
    • Gonadal irradiation/chemotherapy
    • Androgen insensitivity syndrome 46 XY karyotype
    • Congen

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    Description

    This quiz covers the hormonal control of male and female reproductive systems, including the Hypothalamus-Pituitary-Gonadals Axis, and female gonadal dysfunction disorders such as Polycystic Ovary Syndrome.

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