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Questions and Answers
What is the primary condition associated with female pseudohermaphroditism?
What is the primary condition associated with female pseudohermaphroditism?
The differentiation of male and female genitalia occurs after 14 weeks of intrauterine life.
The differentiation of male and female genitalia occurs after 14 weeks of intrauterine life.
False
What are the homologous glands associated with the prostate gland in females?
What are the homologous glands associated with the prostate gland in females?
Skene gland/Paraurethral gland
In cases of ambiguous genitalia, if gonads are ___, further testing like electrolytes and karyotyping must be performed.
In cases of ambiguous genitalia, if gonads are ___, further testing like electrolytes and karyotyping must be performed.
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Match the following glands with their correct gender designation:
Match the following glands with their correct gender designation:
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What is the primary cause of P450 deficiency?
What is the primary cause of P450 deficiency?
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P450 deficiency impacts only male fetuses.
P450 deficiency impacts only male fetuses.
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Name one skeletal abnormality associated with P450 deficiency.
Name one skeletal abnormality associated with P450 deficiency.
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P450 deficiency is classified as a form of __________.
P450 deficiency is classified as a form of __________.
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Match the following enzyme deficiencies with their corresponding effects:
Match the following enzyme deficiencies with their corresponding effects:
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What hormone do Sertoli cells respond to?
What hormone do Sertoli cells respond to?
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Antimullerian hormone causes the development of the Müllerian ducts.
Antimullerian hormone causes the development of the Müllerian ducts.
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What role does testosterone play in male development?
What role does testosterone play in male development?
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The absence of the SRY gene leads to the development of the ______ reproductive system.
The absence of the SRY gene leads to the development of the ______ reproductive system.
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Match the following hormones with their primary effects:
Match the following hormones with their primary effects:
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Which structure develops from Wolffian ducts in males?
Which structure develops from Wolffian ducts in males?
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Inguinal hernias are only associated with female reproductive development.
Inguinal hernias are only associated with female reproductive development.
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What are Tanner stages used to indicate?
What are Tanner stages used to indicate?
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The failure of testosterone to act properly can lead to scanty pubic and ______ hair.
The failure of testosterone to act properly can lead to scanty pubic and ______ hair.
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What happens when the body does not appropriately respond to testosterone?
What happens when the body does not appropriately respond to testosterone?
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Which enzyme is responsible for converting pregnenolone to 17α-hydroxyprogesterone?
Which enzyme is responsible for converting pregnenolone to 17α-hydroxyprogesterone?
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Aldosterone is produced only in the male adrenal glands.
Aldosterone is produced only in the male adrenal glands.
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Name one hormone produced from the adrenal gland that is primarily associated with males.
Name one hormone produced from the adrenal gland that is primarily associated with males.
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The enzyme that converts androstenedione to estrogen is called _____ .
The enzyme that converts androstenedione to estrogen is called _____ .
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Match the hormone with its corresponding precursor:
Match the hormone with its corresponding precursor:
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Which enzyme is crucial for the conversion of 11-deoxycortisol to cortisol?
Which enzyme is crucial for the conversion of 11-deoxycortisol to cortisol?
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The negative feedback loop in hormone synthesis does not involve ACTH.
The negative feedback loop in hormone synthesis does not involve ACTH.
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Identify one key step in the synthesis of cortisol from pregnenolone.
Identify one key step in the synthesis of cortisol from pregnenolone.
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Which of the following is NOT a clinical feature associated with decreased aldosterone in 21 α hydroxylase and 11β hydroxylase deficiency?
Which of the following is NOT a clinical feature associated with decreased aldosterone in 21 α hydroxylase and 11β hydroxylase deficiency?
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Males with 21 α hydroxylase and 11β hydroxylase deficiency typically present with ambiguous genitalia.
Males with 21 α hydroxylase and 11β hydroxylase deficiency typically present with ambiguous genitalia.
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What hormone shows increased levels due to 21 α hydroxylase and 11β hydroxylase deficiency?
What hormone shows increased levels due to 21 α hydroxylase and 11β hydroxylase deficiency?
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The main screening test for diagnosing 21 α hydroxylase and 11β hydroxylase deficiency involves measuring ___.
The main screening test for diagnosing 21 α hydroxylase and 11β hydroxylase deficiency involves measuring ___.
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Match the following clinical features with their associated causes in 21 α hydroxylase and 11β hydroxylase deficiency:
Match the following clinical features with their associated causes in 21 α hydroxylase and 11β hydroxylase deficiency:
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What is the principal medication prescribed for the management of pregnant females with a history of a child with Congenital Adrenal Hyperplasia (CAH)?
What is the principal medication prescribed for the management of pregnant females with a history of a child with Congenital Adrenal Hyperplasia (CAH)?
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Chorionic villi sampling should be performed at 12-13 weeks of pregnancy.
Chorionic villi sampling should be performed at 12-13 weeks of pregnancy.
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What condition leads to sexual development disorder (DSD) specifically in XY individuals?
What condition leads to sexual development disorder (DSD) specifically in XY individuals?
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If a male fetus is detected, the prescribed medication should be ________.
If a male fetus is detected, the prescribed medication should be ________.
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Match the following hormonal deficiencies with their effects on male and female fetuses:
Match the following hormonal deficiencies with their effects on male and female fetuses:
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What is the hormonal profile observed in a case of Disorders of Sexual Development with Complete Androgen Insensitivity Syndrome (CAIS)?
What is the hormonal profile observed in a case of Disorders of Sexual Development with Complete Androgen Insensitivity Syndrome (CAIS)?
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Individuals with Complete Androgen Insensitivity Syndrome (CAIS) can have biological children.
Individuals with Complete Androgen Insensitivity Syndrome (CAIS) can have biological children.
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What is the management strategy for a patient with Complete AIS after breast development?
What is the management strategy for a patient with Complete AIS after breast development?
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In Partial Androgen Insensitivity Syndrome, individuals may present with ____ genitalia at birth.
In Partial Androgen Insensitivity Syndrome, individuals may present with ____ genitalia at birth.
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Match the management strategies with their appropriate descriptions:
Match the management strategies with their appropriate descriptions:
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Which of the following conditions is most commonly associated with complete androgen insensitivity syndrome (AIS)?
Which of the following conditions is most commonly associated with complete androgen insensitivity syndrome (AIS)?
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Individuals with complete androgen insensitivity syndrome will present with male genitalia at birth.
Individuals with complete androgen insensitivity syndrome will present with male genitalia at birth.
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What is a common complaint at puberty for individuals with Disorders of Sexual Development (46XY) who have complete androgen insensitivity syndrome?
What is a common complaint at puberty for individuals with Disorders of Sexual Development (46XY) who have complete androgen insensitivity syndrome?
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The most common tumor associated with undescended testes is called _____ .
The most common tumor associated with undescended testes is called _____ .
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Match the following conditions with their associated characteristics:
Match the following conditions with their associated characteristics:
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What is the most common cause of ambiguous genitalia in females?
What is the most common cause of ambiguous genitalia in females?
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Ovotestes are characterized by both ovarian and testicular tissue present on each side.
Ovotestes are characterized by both ovarian and testicular tissue present on each side.
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What is the karyotype associated with Turner's Syndrome?
What is the karyotype associated with Turner's Syndrome?
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The disorder of sexual development (DSD) most commonly results in ______ genitalia.
The disorder of sexual development (DSD) most commonly results in ______ genitalia.
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Match the following terms with their descriptions:
Match the following terms with their descriptions:
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What is the most common cause of ambiguous genitalia in 46XY individuals?
What is the most common cause of ambiguous genitalia in 46XY individuals?
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Swyer's Syndrome is associated with absent Müllerian ducts.
Swyer's Syndrome is associated with absent Müllerian ducts.
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Identify the feedback response of GnRH in individuals with abnormal testosterone levels.
Identify the feedback response of GnRH in individuals with abnormal testosterone levels.
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Increased levels of __________ are observed due to absent testosterone in individuals with dysgenetic testes.
Increased levels of __________ are observed due to absent testosterone in individuals with dysgenetic testes.
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Match the following cells with their associated characteristics:
Match the following cells with their associated characteristics:
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Study Notes
P450 Deficiency
- A newly diagnosed form of Congenital Adrenal Hyperplasia (CAH).
- Caused by a deficiency of the P450 oxidoreductase enzyme.
- Enzyme located on chromosome 7, acts as an electron donor for other enzymes.
- Deficiency impacts both male and female fetuses.
- Often results in ambiguous genitalia.
- Additional symptoms may include skeletal abnormalities like craniosynostosis.
P450 Deficiency - Summary
- Several enzyme deficiencies associated with P450 deficiency present with different characteristics.
- Enzyme deficiencies affecting female fetuses include 21α hydroxylase, 11β hydroxylase.
- 17α hydroxylase and 17-20 lyase deficiencies lead to ambiguous genitalia.
- 3β HSD and P450 DR deficiency affect both males and females.
Protocol for Management of Ambiguous Genitalia
- Physical examination includes examining gonads at the inguinal ring.
- If gonads are not palpable, investigate with electrolyte levels, 17-hydroxyprogesterone levels, karyotyping, and FISH.
- Homologous glands are organs with same embryological origin.
- Males: Prostate gland, bulbourethral gland/Cowper's gland.
- Females: Skene gland/paraurethral gland, Bartholin gland.
- Note: Differentiation in male & female occurs from 12-14 weeks of intrauterine life.
- Sex determination can be done via Ultrasound.
-
Pseudohermaphrodite:
- Karyotype: 46 XY in males, 46 XX in females.
- External genitalia: Ambiguous in females.
- Cause: Complete Androgen Insensitivity Syndrome (CAIS) in females.
Hormonal Pathways
- Diagram represents a cascade of hormonal effects.
- SRY Gene initiates male development.
-
Sertoli cells: Respond to FSH.
- Produce anti-Mullerian hormone (AMH).
-
Leydig cells: Respond to hormonal signals.
- Produce testosterone and inhibin B.
- FSH: Stimulates Sertoli cells.
- Inhibin B: Provides negative feedback for FSH.
- Testosterone: Drives male characteristics.
- Wolffian ducts: Develop into internal reproductive organs: epididymis, vas deferens, seminal vesicles.
Female Development (Absence of SRY Gene)
- AMH is absent, Müllerian ducts persist leading to fallopian tubes, uterus, and cervix development.
- Wolffian ducts regress.
- Testosterone levels are low.
- Estrogens drive female trait development.
Puberty and Secondary Sex Characteristics
- Secondary sex development: Depends on proper hormonal function.
- Estrogen: Plays a role in female breast development.
- Tanner stages: Indicate adolescent development through various stages.
Adrenal Gland Physiology
- Diagram depicts adrenal gland physiology, focusing on hormone synthesis.
Hormone Synthesis Pathway
- Pregnenolone: Starting point of the pathway, modified by 17α-hydroxylase to produce 17α-hydroxyprogesterone.
- Enzymes catalyze reactions to form various hormones.
- 17,20 lyase: converts 17α-hydroxyprogesterone to DHEA
- 3β-HSD: Converts 17α-hydroxprogesterone to androstenedione, androstenedione to testosterone, and DHEA to androstenedione.
- 21α-hydroxylase and 11β-hydroxylase: Crucial for cortisol and aldosterone production.
- Aromatase: Pathway producing estrogen in females.
- 17α-hydroxylase: Converts progesterone to 17α-hydroxyprogesterone.
- Negative feedback loop: Involving ACTH.
- Sex-based variations: Pathways differ in males and females.
Hormone Production Summary
- Cortisol: Pregnenolone --> 17a-hydroxylase, 21α-hydroxylase, 11β hydroxylase
- Aldosterone: Pregnenolone --> 17a-hydroxylase, 21α-hydroxylase, 11β hydroxylase.
- Testosterone: Pregnenolone --> 17α-hydroxylase, 17, 20 lyase, 3β-HSD
- Androstenedione: Pregnenolone --> 17a-hydroxylase, 17, 20 lyase, 3β-HSD
- Estrogen: Androstenedione --> Aromatase
Disorders of Sexual Development (46XY)
- Hormonal profile shows variations for testosterone, GnRH, LH, FSH, and inhibin B.
- Management: Involves identifying the individual as female, gonadectomy, estrogen replacement therapy, and vaginoplasty.
- Note: Complete AIS individuals cannot have biological children.
Partial AIS
- Partial sensitivity to androgens.
- Wolffian duct develops, but internal organs are poorly formed.
- Note: The image shows a hormonal feedback loop diagram, suggesting potential disorders. The text describes treatment strategies for various conditions, including complete and partial AIS.
21α Hydroxylase & 11β Hydroxylase Deficiency
- Clinical features:
- Hyponatremia, hyperkalemia, metabolic acidosis, hypotension, and salt water wasting.
- Hypoglycemia due to low cortisol.
- Hormonal changes: Elevated 17-OH progesterone and androgens.
- Sex differences: Normal external genitalia in males; ambiguous genitalia in females.
- Management:
- Screening: 17-OH progesterone levels.
- Diagnostic test: Action based on 17-OH progesterone levels.
Management of Pregnant Females with a History of a Child with CAH
- Use glucocorticoids (dexamethasone) during pregnancy to prevent the same condition reoccurring.
- Started at 4-5 weeks of pregnancy, up to 9 weeks maximum delay.
- Chorionic villi sampling can determine sex and conduct gene testing at 10-11 weeks.
- Continue dexamethasone if the fetus is affected female, discontinue if the fetus is male or unaffected.
Other Causes of Sexual Development Disorder (DSD)
- 17α-hydroxylase/17,20-lyase deficiency: Leads to DSD in XY individuals.
-
3β-hydroxysteroid dehydrogenase deficiency:
- Males: Ambiguous genitalia due to increased testosterone.
- Females: Ambiguous genitalia due to increased DHEA.
Disorders of Sexual Development (46 XY)
-
Female external genitalia:
- Complete androgen insensitivity syndrome (CAIS): most common cause.
- Ambiguous genitalia: Partial AIS or ovotestis.
- Congenital Adrenal Hyperplasia (CAH): 17-20 hydroxylase deficiency, 17 α lyase deficiency, 3 β HSD deficiency, P450 deficiency.
- Characteristics: Considered female at birth.
- Complaints at puberty: Primary amenorrhea.
- Treatment: Gonadectomy for individuals with undescended testes.
Androgen Insensitivity Syndrome (AIS)
- Location: Androgen receptor on the long arm of the X chromosome, SRY gene on the short arm of the Y chromosome.
- Complete AIS: X-linked, recessive disorder, mutation in androgen receptor causing resistance to testosterone and DHT. Phenotypically female, experiencing primary amenorrhea.
General Gynaecology
-
AIS Features:
- Primary amenorrhea due to absent uterus.
- Breast Tanner 4/5.
- Pubic and axillary hair Tanner 1 & 2.
- Clitoromegaly/Labioscrotal fusion.
- Most common cause of ambiguous genitalia in 46XY.
- Most common cause of male pseudohermaphroditism.
- Management: Similar to AIS. Perform gonadectomy as soon as possible.
Swyer's Syndrome
- 46,XY: Individuals with testes that are dysgenetic.
- Causes: Idiopathic or point mutation of the SRY gene.
- Features: Increased chance of malignancy. Intra-abdominal testes.
-
Sertoli cells (dysgenetic):
- Absent AMH, resulting in female internal genitalia.
- Elevated FSH.
-
Leydig cells (dysgenetic):
- Absent testosterone, resulting in absent male internal genitalia.
- Low FSH and inhibin B.
-
Feedback on GnRH:
- Absent, resulting in absent male external genitalia.
- Elevated LH and FSH.
- Presents as female external genitalia, appearing as a female child at birth.
Disorders of Sexual Development (46XX)
-
Abnormal Development of Gonads:
-
Ovotestes: True hermaphrodite, karyotype 46 XX --> 46 XY.
- Pattern 1 (Most common): One ovary and one testicle on each side.
- Pattern 2 (Less common): Ovarian and testicular tissue on both sides.
- External genitalia: Often appear male at birth.
- Turner's Syndrome: Karyotype 45 XO, presents with streak ovaries.
- Mosaic: Karyotype 45 XO + 46 XY, present with streak ovaries and dysgenetic testes.
-
Ovotestes: True hermaphrodite, karyotype 46 XX --> 46 XY.
-
Ambiguous Genitalia:
- Congenital Adrenal Hyperplasia: Most common cause.
- Maternal androgens: Elevated maternal androgens.
- Androgen secreting tumor: A tumor producing androgens.
- Luteoma: An androgen-producing tumor.
- Androgenic drugs: Exposure during pregnancy.
- Placental aromatase deficiency: Insufficient aromatase in the placenta.
Pathophysiology of CAH
- Most common cause of ambiguous genitalia in females: Disorder of sexual development (DSD) in 46XX.
- Previous term: Female pseudohermaphroditism.
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Description
This quiz covers the medical condition P450 deficiency, a form of Congenital Adrenal Hyperplasia (CAH). It explores its causes, effects on male and female fetuses, and management protocols for ambiguous genitalia. Test your knowledge on the enzyme deficiencies and associated symptoms.
