Reproductive Endocrinology Practice Questions

Q: What are the typical serum Anti-Müllerian hormone levels in Polycystic Ovary Syndrome (PCOS)?

Elevated. **Explanation:** **Correct Option: A. Elevated** In Polycystic Ovary Syndrome (PCOS), serum Anti-Müllerian hormone (AMH) levels are typically **2 to 4 times higher** than in healthy women. This elevation occurs due to two primary mechanisms: 1. **Increased Follicle Count:** AMH is produced by the granulosa cells of pre-antral and small antral follicles. The hallmark of PCOS is an excess of these small follicles (polycystic morphology), leading to a higher cumulative production of AMH. 2. **Increased Production per Follicle:** Research indicates that individual granulosa cells in PCOS patients produce more AMH than those in normal ovaries, likely due to an arrest in follicle development and altered feedback mechanisms. **Why other options are incorrect:** * **B. Decreased:** Low AMH is a marker of diminished ovarian reserve (e.g., Premature Ovarian Insufficiency or menopause), which is the physiological opposite of the follicular excess seen in PCOS. * **C & D. Unchanged/Variable:** While AMH levels can fluctuate slightly, the consistent clinical finding in PCOS is a significant elevation. It is rarely "normal" or "variable" in a way that would exclude its use as a diagnostic marker. **High-Yield Clinical Pearls for NEET-PG:** * **Diagnostic Utility:** Although not yet part of the formal Rotterdam Criteria, AMH is increasingly used as a surrogate marker for Polycystic Ovarian Morphology (PCOM) on ultrasound. * **Correlation:** AMH levels correlate directly with the severity of the disease and the degree of hyperandrogenism. * **Cycle Stability:** Unlike FSH/LH, AMH levels remain relatively stable throughout the menstrual cycle, making it a convenient "anytime" blood test. * **OHSS Risk:** High baseline AMH in PCOS patients is a significant predictor of Ovarian Hyperstimulation Syndrome (OHSS) during IVF.

Q: Which of the following is NOT seen in testicular feminization syndrome?

Short stature. **Explanation:** **Testicular Feminization Syndrome (now known as Complete Androgen Insensitivity Syndrome - CAIS)** is an X-linked recessive condition where a genetic male (46,XY) has a total resistance to androgens. **Why "Short Stature" is the correct answer:** In CAIS, patients typically have **normal or tall stature**. This is because the Y chromosome contains growth-promoting genes, and the conversion of testosterone to estrogen (via aromatization) is sufficient to trigger the pubertal growth spurt but occurs later than in XX females, allowing for more pre-pubertal bone growth. **Analysis of incorrect options:** * **46,XY karyotype:** This is the hallmark of the condition. Despite the female phenotype, the genetic makeup is male. * **Primary amenorrhea:** Since there is no uterus (due to Anti-Müllerian Hormone production by the testes), these patients present with primary amenorrhea. They have a "blind-ending" vaginal pouch. * **Presence of a vagina:** A short, blind-ending vagina is present. It develops from the urogenital sinus (which does not require androgens), but the upper 1/3rd (Müllerian part) is absent. **High-Yield Clinical Pearls for NEET-PG:** * **Phenotype:** Feminine build, well-developed breasts (due to peripheral aromatization of testosterone to estrogen), but **absent or scanty axillary and pubic hair** (the "hairless woman"). * **Gonads:** Undescended testes are present (abdominal, inguinal, or labial). These must be removed after puberty to prevent **gonadoblastoma/dysgerminoma**, though the risk is low before age 20. * **Hormonal Profile:** High LH, normal to high Testosterone (but ineffective), and high Estrogen (relative to normal males). * **Differential Diagnosis:** In **Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome**, the karyotype is 46,XX, and axillary/pubic hair is normal.

Q: A 19-year-old patient presents with primary amenorrhea. She has well-developed breasts and pubic hair, but there is an absence of the vagina and uterus. What is the likely diagnosis?

Mullerian agenesis. ### Explanation **Mullerian Agenesis (Mayer-Rokitansky-Küster-Hauser Syndrome)** is the correct diagnosis. This condition is characterized by the congenital absence of the uterus and the upper two-thirds of the vagina due to the failure of the Mullerian ducts to develop. 1. **Why it is correct:** In MRKH, the ovaries are functional and the karyotype is **46, XX**. Because the ovaries are intact, estrogen production is normal, leading to **normal secondary sexual characteristics** (well-developed breasts and pubic hair). However, the absence of the uterus results in primary amenorrhea. 2. **Why the others are wrong:** * **XYY Syndrome:** These individuals are phenotypically male, often tall, with normal internal and external male genitalia. * **Gonadal Dysgenesis (e.g., Turner Syndrome):** Patients typically have "streak ovaries," leading to estrogen deficiency. This results in **delayed or absent breast development**, which contradicts this patient’s presentation. * **Klinefelter’s Syndrome (47, XXY):** This affects males, presenting with small testes, gynecomastia, and infertility. ### High-Yield Clinical Pearls for NEET-PG: * **Differential Diagnosis:** Always differentiate MRKH from **Androgen Insensitivity Syndrome (AIS)**. In AIS (46, XY), there is absent/scanty pubic hair and present testes, whereas in MRKH, pubic hair is normal and ovaries are present. * **Associated Anomalies:** 30-40% of patients with Mullerian agenesis have **renal anomalies** (e.g., renal agenesis, pelvic kidney). Always perform a renal ultrasound. * **Hormonal Profile:** FSH, LH, and Estrogen levels are **normal** in MRKH. * **Treatment:** Non-surgical (Frank’s dilators) or surgical (McIndoe vaginoplasty) creation of a neovagina.

Q: Which of the following statements is/are true regarding androgen insensitivity syndrome?

Absent vagina. **Explanation:** **Androgen Insensitivity Syndrome (AIS)**, formerly known as Testicular Feminization Syndrome, is an X-linked recessive condition where a genetic male (46, XY) has a functional loss of androgen receptors. 1. **Why Option A is Correct:** In AIS, the testes develop normally (due to the SRY gene) and produce **Anti-Müllerian Hormone (AMH)**. AMH causes the regression of Müllerian structures (uterus, fallopian tubes, and the upper 2/3rd of the vagina). Consequently, the patient has an **absent or short, blind-ending vagina** and no uterus. 2. **Why Option B & C are Incorrect:** The karyotype in AIS is **46, XY** (genetically male). 46, XX is a normal female or seen in Müllerian Agenesis (MRKH), while 45, XO is characteristic of Turner Syndrome. 3. **Why Option D is Incorrect:** Because the body is resistant to androgens, **pubic and axillary hair are absent or very sparse**. This is a key clinical differentiator from MRKH syndrome, where hair growth is normal. **High-Yield Clinical Pearls for NEET-PG:** * **Phenotype:** Phenotypically female with well-developed breasts (due to peripheral conversion of testosterone to estrogen). * **Gonads:** Undescended testes are present (often in the inguinal canal or abdomen). These should be removed **after puberty** to prevent gonadoblastoma, allowing for natural completion of breast development. * **Laboratory Findings:** High Testosterone levels (for a female range), high LH, and normal to high FSH. * **Differential Diagnosis:** Always differentiate from **MRKH Syndrome** (46, XX, normal ovaries, normal hair) and **5-alpha reductase deficiency** (virilization at puberty).

Q: A 17-year-old patient presents with primary amenorrhea. On physical examination, she is 5'8" tall, has no breast development, and no axillary or pubic hair. Pelvic examination reveals a normally developed vagina, a visible cervix, a palpable uterus, and normal ovaries. The physician decides to test her sense of smell. What is the physician suspecting?

Kallman's syndrome. ### Explanation **Correct Option: B. Kallmann Syndrome** The clinical presentation of **primary amenorrhea** combined with a **lack of secondary sexual characteristics** (no breast development, no axillary/pubic hair) indicates a failure of the Hypothalamic-Pituitary-Ovarian (HPO) axis. Kallmann Syndrome is a form of **hypogonadotropic hypogonadism** caused by the failure of GnRH-secreting neurons to migrate from the olfactory placode to the hypothalamus. This migration defect is often associated with the hypoplasia or aplasia of the olfactory bulbs, leading to **anosmia** (loss of smell) or hyposmia. Testing the sense of smell is the classic clinical bedside maneuver to differentiate Kallmann syndrome from other forms of hypogonadotropic hypogonadism. **Why other options are incorrect:** * **Asherman’s Syndrome:** This involves intrauterine adhesions (usually post-curettage). Patients have normal secondary sexual characteristics and ovaries; the defect is in the end-organ (uterus). * **Stein-Leventhal Syndrome (PCOS):** Typically presents with secondary amenorrhea, hirsutism, and obesity. Patients have normal breast development and pubic hair. * **Sheehan’s Syndrome:** This is postpartum pituitary necrosis following severe obstetric hemorrhage. It presents as secondary amenorrhea and failure of lactation in women who have already achieved puberty. **NEET-PG High-Yield Pearls:** * **Genetics:** Most commonly X-linked recessive (KAL1 gene mutation). * **Clinical Triad:** Primary amenorrhea + Delayed puberty + Anosmia. * **Hormonal Profile:** Low GnRH → Low FSH/LH → Low Estrogen (Hypo-Hypo). * **Imaging:** MRI may show absent or hypoplastic olfactory bulbs. * **Note:** While the question mentions "normal ovaries" and "palpable uterus," these organs are anatomically present but remain prepubertal/infantile due to the lack of hormonal stimulation.

Question 1

A 24-year-old female presents with a chief complaint of hair growth all over her body. She reports that her menses began at age 13 and have always been very irregular. She also complains of acne. Physical examination reveals hair around the nipples, chin, and upper lip. There is no galactorrhea, thyromegaly, or temporal balding. Pelvic examination is normal, and there is no evidence of clitoromegaly. Which of the following should be included in the differential diagnosis based on the patient's history and physical examination?

Accepted Answer

Sertoli-Leydig cell tumor

Answer

Idiopathic hirsutism

Answer

Stein-Leventhal syndrome

Answer

Late-onset congenital adrenal hyperplasia

Question 2

What are the typical serum Anti-Müllerian hormone levels in Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Elevated

Answer

Decreased

Answer

Unchanged

Answer

Variable

Question 3

Which of the following is NOT seen in testicular feminization syndrome?

Accepted Answer

Short stature

Answer

46,XY karyotype

Answer

Primary amenorrhea

Answer

Presence of a vagina

Question 4

A girl is said to have primary amenorrhea in the absence of secondary sexual characters by what age?

Accepted Answer

13 years

Answer

16 years

Answer

14 years

Answer

15 years

Question 5

The eosinophilic index of the lateral vaginal wall cells indicates what?

Accepted Answer

Estrogenic effect

Answer

Effect of luteinizing hormone

Answer

Progesterone effect

Answer

Prolactin effect

Question 6

A 19-year-old patient presents with primary amenorrhea. She has well-developed breasts and pubic hair, but there is an absence of the vagina and uterus. What is the likely diagnosis?

Accepted Answer

Mullerian agenesis

Answer

XYY syndrome

Answer

Gonadal dysgenesis

Answer

Klinefelter's syndrome

Question 7

Which of the following statements is/are true regarding androgen insensitivity syndrome?

Accepted Answer

Absent vagina

Answer

Karyotype is XX

Answer

Karyotype is XO

Answer

Pubic hair is normally present

Question 8

Pure gonadal dysgenesis is diagnosed in the presence of which of the following findings?

Accepted Answer

Bilateral streak gonads

Answer

Bilateral dysgenetic gonads

Answer

One streak gonad and one dysgenetic gonad

Answer

One streak gonad and one normal-appearing gonad

Question 9

A 17-year-old patient presents with primary amenorrhea. On physical examination, she is 5'8" tall, has no breast development, and no axillary or pubic hair. Pelvic examination reveals a normally developed vagina, a visible cervix, a palpable uterus, and normal ovaries. The physician decides to test her sense of smell. What is the physician suspecting?

Accepted Answer

Kallman's syndrome

Answer

Asherman's syndrome

Answer

Stein-Leventhal syndrome

Answer

Sheehan's syndrome

Question 10

A newborn infant with ambiguous genitalia is found to have a 46, XX karyotype. All of the following are diagnostic possibilities EXCEPT?

Accepted Answer

Partial androgen resistance syndrome

Answer

21-hydroxylase deficiency

Answer

True hermaphroditism

Answer

Maternal virilizing tumor

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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