Gynaecology Pg No 151 -160

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Questions and Answers

What is the primary condition associated with female pseudohermaphroditism?

Klinefelter Syndrome

Complete Androgen Insensitivity Syndrome (correct)

Turner Syndrome

Androgen Excess Disorder

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?

Skene gland/Paraurethral gland

In cases of ambiguous genitalia, if gonads are ___, further testing like electrolytes and karyotyping must be performed.

not palpable Signup and view all the answers

Match the following glands with their correct gender designation:

Prostate gland = Male Bartholin gland = Female Bulbourethral gland = Male Skene gland = Female Signup and view all the answers

What is the primary cause of P450 deficiency?

Deficiency of the P450 oxidoreductase enzyme Signup and view all the answers

P450 deficiency impacts only male fetuses.

False Signup and view all the answers

Name one skeletal abnormality associated with P450 deficiency.

Craniosynostosis Signup and view all the answers

P450 deficiency is classified as a form of __________.

Congenital Adrenal Hyperplasia Signup and view all the answers

Match the following enzyme deficiencies with their corresponding effects:

21 α hydroxylase = Female phenotype condition 17 α hydroxylase = Ambiguous genitalia 3 β HSD = Condition affecting both males and females 11 β hydroxylase = Female phenotype condition Signup and view all the answers

What hormone do Sertoli cells respond to?

FSH Signup and view all the answers

Antimullerian hormone causes the development of the Müllerian ducts.

False Signup and view all the answers

What role does testosterone play in male development?

Drives male characteristics such as external genitalia development and secondary sex characteristics. Signup and view all the answers

The absence of the SRY gene leads to the development of the ______ reproductive system.

female Signup and view all the answers

Match the following hormones with their primary effects:

FSH = Stimulates Sertoli cells Testosterone = Stimulates male characteristics Antimullerian hormone = Causes regression of Müllerian ducts Inhibin B = Provides negative feedback for FSH Signup and view all the answers

Which structure develops from Wolffian ducts in males?

Epididymis Signup and view all the answers

Inguinal hernias are only associated with female reproductive development.

False Signup and view all the answers

What are Tanner stages used to indicate?

Adolescent development through various stages. Signup and view all the answers

The failure of testosterone to act properly can lead to scanty pubic and ______ hair.

axillary Signup and view all the answers

What happens when the body does not appropriately respond to testosterone?

Inguinal hernia Signup and view all the answers

Which enzyme is responsible for converting pregnenolone to 17α-hydroxyprogesterone?

17α-hydroxylase Signup and view all the answers

Aldosterone is produced only in the male adrenal glands.

False Signup and view all the answers

Name one hormone produced from the adrenal gland that is primarily associated with males.

Testosterone Signup and view all the answers

The enzyme that converts androstenedione to estrogen is called _____ .

Aromatase Signup and view all the answers

Match the hormone with its corresponding precursor:

Cortisol = Pregnenolone Estrogen = Androstenedione Testosterone = Pregnenolone Aldosterone = Pregnenolone Signup and view all the answers

Which enzyme is crucial for the conversion of 11-deoxycortisol to cortisol?

11β-hydroxylase Signup and view all the answers

The negative feedback loop in hormone synthesis does not involve ACTH.

False Signup and view all the answers

Identify one key step in the synthesis of cortisol from pregnenolone.

Hydroxylation by 21α-hydroxylase Signup and view all the answers

Which of the following is NOT a clinical feature associated with decreased aldosterone in 21 α hydroxylase and 11β hydroxylase deficiency?

Hypoglycemia Signup and view all the answers

Males with 21 α hydroxylase and 11β hydroxylase deficiency typically present with ambiguous genitalia.

False Signup and view all the answers

What hormone shows increased levels due to 21 α hydroxylase and 11β hydroxylase deficiency?

17-OH progesterone Signup and view all the answers

The main screening test for diagnosing 21 α hydroxylase and 11β hydroxylase deficiency involves measuring ___.

17-OH progesterone levels Signup and view all the answers

Match the following clinical features with their associated causes in 21 α hydroxylase and 11β hydroxylase deficiency:

Hyponatremia = Decrease in Aldosterone Hyperkalemia = Decrease in Aldosterone Hypoglycemia = Decrease in Cortisol Salt water wasting = Decrease in Aldosterone Signup and view all the answers

What is the principal medication prescribed for the management of pregnant females with a history of a child with Congenital Adrenal Hyperplasia (CAH)?

Dexamethasone Signup and view all the answers

Chorionic villi sampling should be performed at 12-13 weeks of pregnancy.

False Signup and view all the answers

What condition leads to sexual development disorder (DSD) specifically in XY individuals?

17α-hydroxylase/17,20-lyase deficiency Signup and view all the answers

If a male fetus is detected, the prescribed medication should be ________.

discontinued Signup and view all the answers

Match the following hormonal deficiencies with their effects on male and female fetuses:

Aldosterone = Normal external genitalia Cortisol = Ambiguous genitalia Testosterone = Ambiguous genitalia DHEA = Ambiguous genitalia (males & females) Signup and view all the answers

What is the hormonal profile observed in a case of Disorders of Sexual Development with Complete Androgen Insensitivity Syndrome (CAIS)?

↑ GnRH, ↑ FSH, ↑ LH, Inhibin B ↓ Signup and view all the answers

Individuals with Complete Androgen Insensitivity Syndrome (CAIS) can have biological children.

False Signup and view all the answers

What is the management strategy for a patient with Complete AIS after breast development?

Gonadectomy of intraabdominal testes and estrogen replacement therapy. Signup and view all the answers

In Partial Androgen Insensitivity Syndrome, individuals may present with ____ genitalia at birth.

ambiguous Signup and view all the answers

Match the management strategies with their appropriate descriptions:

Gonadectomy = Surgery to remove intraabdominal testes Estrogen replacement therapy = Hormonal treatment to develop female characteristics Vaginoplasty = Surgical creation of a functional vagina McIndoe vaginoplasty = A specific technique for vaginoplasty Signup and view all the answers

Which of the following conditions is most commonly associated with complete androgen insensitivity syndrome (AIS)?

Swyer's syndrome Signup and view all the answers

Individuals with complete androgen insensitivity syndrome will present with male genitalia at birth.

False Signup and view all the answers

What is a common complaint at puberty for individuals with Disorders of Sexual Development (46XY) who have complete androgen insensitivity syndrome?

Primary amenorrhea Signup and view all the answers

The most common tumor associated with undescended testes is called _____ .

Gonadoblastoma Signup and view all the answers

Match the following conditions with their associated characteristics:

Complete Androgen Insensitivity Syndrome = Phenotypically female with primary amenorrhea Congenital Adrenal Hyperplasia = Various enzyme deficiencies Ambiguous genitalia = Partial androgen insensitivity Gonadal tumors = Associated with undescended testes Signup and view all the answers

What is the most common cause of ambiguous genitalia in females?

Congenital Adrenal Hyperplasia Signup and view all the answers

Ovotestes are characterized by both ovarian and testicular tissue present on each side.

True Signup and view all the answers

What is the karyotype associated with Turner's Syndrome?

45 XO Signup and view all the answers

The disorder of sexual development (DSD) most commonly results in ______ genitalia.

ambiguous Signup and view all the answers

Match the following terms with their descriptions:

Ovotestes = True hermaphrodite with both ovarian and testicular tissue Turner's Syndrome = Condition characterized by streak ovaries and a 45 XO karyotype Mosaic = Combination of 45 XO and 46 XY karyotypes Congenital Adrenal Hyperplasia = Most common cause of ambiguous genitalia in females Signup and view all the answers

What is the most common cause of ambiguous genitalia in 46XY individuals?

Swyer's Syndrome Signup and view all the answers

Swyer's Syndrome is associated with absent Müllerian ducts.

True Signup and view all the answers

Identify the feedback response of GnRH in individuals with abnormal testosterone levels.

Absent feedback leads to elevated LH and FSH. Signup and view all the answers

Increased levels of __________ are observed due to absent testosterone in individuals with dysgenetic testes.

FSH Signup and view all the answers

Match the following cells with their associated characteristics:

Sertoli Cells = Absent AMH, leading to female internal genitalia Leydig Cells = Absent testosterone, resulting in female external genitalia Dysgenetic Gonads = Increased risk of malignancy with intra-abdominal testes Testis = Produces testosterone causing virilization at puberty Signup and view all the answers

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.
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.