Reproductive Endocrinology — MCQs

Reproductive Endocrinology Indian Medical PG Practice Questions and MCQs

Question 191: Regarding androgen insensitivity syndrome, which of the following statements is/are true?

A. Genotype is 46,XX
B. Scanty pubic hair (Correct Answer)
C. Well-developed female external genitalia
D. Uterus is present

Explanation: **Explanation:** Androgen Insensitivity Syndrome (AIS), formerly known as Testicular Feminization Syndrome, is an X-linked recessive condition where there is a functional defect in the androgen receptor. **1. Why "Scanty pubic hair" is correct:** In AIS, individuals have high levels of circulating testosterone (produced by the undescended testes), but the body’s receptors cannot respond to it. Since the development of pubic and axillary hair is dependent on androgen action, these patients typically present with **absent or scanty pubic and axillary hair**. This is a hallmark clinical sign that differentiates AIS from Mullerian Agenesis (MRKH), where hair growth is normal. **2. Why other options are incorrect:** * **Option A (Genotype is 46,XX):** Incorrect. The genotype is **46,XY**. These are phenotypically female individuals who are genetically male. * **Option C (Well-developed female external genitalia):** While the external genitalia appear female (due to peripheral conversion of testosterone to estrogen), they are often described as "blind-ending" or having a **shortened vagina**. The labia may be underdeveloped, and the clitoris is usually small. * **Option D (Uterus is present):** Incorrect. The testes produce **Anti-Mullerian Hormone (AMH)**, which causes regression of the Mullerian ducts. Therefore, the uterus, fallopian tubes, and upper third of the vagina are **absent**. **NEET-PG High-Yield Pearls:** * **Presentation:** Primary amenorrhea with excellent breast development (due to aromatization of androgens to estrogen). * **Gonads:** Undescended testes are present (often in the inguinal canal or abdomen) and must be removed after puberty to prevent **gonadoblastoma/dysgerminoma**. * **Differential Diagnosis:** In **MRKH (Mullerian Agenesis)**, the genotype is 46,XX, ovaries are present, and pubic hair is normal. In **AIS**, the genotype is 46,XY, testes are present, and pubic hair is scanty.

Question 192: A baby girl presents with bilateral inguinal masses, which are found to be testes in the inguinal canals. Which karyotype would you expect to find in the child?

A. 46, XX
B. 46, XY (Correct Answer)
C. 47, XXY
D. 47, XYY

Explanation: ### Explanation The clinical presentation of a phenotypically female infant with bilateral inguinal masses (testes) is a classic description of **Androgen Insensitivity Syndrome (AIS)**, formerly known as Testicular Feminization Syndrome. **Why 46, XY is Correct:** In AIS, the individual has a **46, XY** karyotype. The underlying pathology is a mutation in the **Androgen Receptor (AR) gene**. Although the SRY gene on the Y chromosome leads to the development of functional testes that produce testosterone and Anti-Müllerian Hormone (AMH), the end-organs are unresponsive to androgens. Consequently: * **External Genitalia:** Develop along female lines due to lack of androgen action. * **Internal Genitalia:** Müllerian structures (uterus, fallopian tubes, upper vagina) are absent because AMH production is normal. * **Testes:** Often fail to descend fully and are frequently found in the inguinal canals or abdomen. **Analysis of Incorrect Options:** * **46, XX (Option A):** This is a normal female karyotype. While inguinal hernias can occur in girls, they would contain ovaries, not testes. * **47, XXY (Option C):** This is **Klinefelter Syndrome**. These individuals have a male phenotype with small, firm testes and gynecomastia; they do not present as phenotypic females with inguinal masses. * **47, XYY (Option D):** This is **Jacob’s Syndrome**. These individuals are phenotypically male, often tall, and do not present with female external genitalia. **NEET-PG High-Yield Pearls:** * **AIS vs. MRKH:** Both present with primary amenorrhea and a blind vaginal pouch. However, AIS has a **46, XY** karyotype, absent pubic/axillary hair, and **present testes**, whereas MRKH has a **46, XX** karyotype, normal pubic hair, and **present ovaries**. * **Management:** Testes should be removed (gonadectomy) after puberty to prevent malignancy (gonadoblastoma/dysgerminoma) while allowing for natural bone growth via estrogen derived from peripheral aromatization. * **Most common cause** of primary amenorrhea with absent uterus and male testosterone levels is AIS.

Question 193: A 28-year-old lady is suspected to have polycystic ovarian disease. For testing LH and FSH, which days of the menstrual cycle are best for sample collection?

A. Days 2-5 (Correct Answer)
B. Day 10
C. Days 13-15
D. Days 24-26

Explanation: **Explanation:** The correct answer is **A. Days 2-5**. **1. Why Days 2-5 is correct:** In reproductive endocrinology, testing for LH (Luteinizing Hormone) and FSH (Follicle Stimulating Hormone) must be done during the **early follicular phase** (Days 2-5 of the menstrual cycle). At this stage, the ovaries are in a "quiescent" state with minimal feedback from estrogen and progesterone. This provides a **baseline measurement** of pituitary function. In PCOS, this timing is crucial to identify the characteristic **reversal of the LH:FSH ratio** (typically >2:1 or 3:1), as LH levels are inappropriately elevated while FSH remains low-normal. **2. Why other options are incorrect:** * **Day 10 (Option B):** This is the mid-follicular phase. Dominant follicle selection has already occurred, and rising estrogen levels begin to suppress FSH and stimulate LH, making baseline assessment inaccurate. * **Days 13-15 (Option C):** This corresponds to the **periovulatory period**. There is a physiological LH surge and a smaller FSH surge to trigger ovulation. Testing here would show high LH levels in any healthy woman, making it impossible to diagnose PCOS. * **Days 24-26 (Option D):** This is the **late luteal phase**. High levels of progesterone from the corpus luteum suppress both LH and FSH, rendering the test results clinically useless for baseline evaluation. **Clinical Pearls for NEET-PG:** * **Rotterdam Criteria:** Diagnosis of PCOS requires 2 out of 3: (1) Hyperandrogenism, (2) Oligo/anovulation, (3) Polycystic ovaries on USG. * **Gold Standard Timing:** While the LH:FSH ratio is a classic teaching point, it is no longer a mandatory diagnostic criterion under Rotterdam; however, it remains a high-yield exam fact. * **AMH (Anti-Müllerian Hormone):** Often elevated in PCOS and can be tested on *any* day of the cycle, unlike LH/FSH.

Question 194: A patient with spontaneous abortion presents with a history of amenorrhea and an FSH level of 6 IU/mL. What is the most likely diagnosis?

A. Ovarian failure
B. Uterine synechiae (Correct Answer)
C. Pregnancy
D. Pituitary failure

Explanation: **Explanation:** The clinical presentation of amenorrhea following a spontaneous abortion (which often involves a D&C procedure) combined with a **normal FSH level (6 IU/mL)** strongly points towards an anatomical cause rather than a hormonal one. **1. Why Uterine Synechiae is correct:** Uterine synechiae, or **Asherman Syndrome**, is the most common cause of secondary amenorrhea following intrauterine instrumentation (like curettage for abortion). The normal FSH level indicates that the Hypothalamic-Pituitary-Ovarian (HPO) axis is intact and functioning correctly. The amenorrhea is "outflow tract" related; the endometrium has been replaced by adhesions, making it unresponsive to hormonal stimulation. **2. Why other options are incorrect:** * **Ovarian Failure:** This would present with **Hypergonadotropic Hypogonadism**. You would expect a significantly elevated FSH (>25–40 IU/mL) due to the lack of negative feedback from estrogen. * **Pituitary Failure:** This would present with **Hypogonadotropic Hypogonadism**. You would expect very low or undetectable levels of FSH and LH. * **Pregnancy:** While pregnancy causes amenorrhea and a low/normal FSH, the question specifies the patient *had* a spontaneous abortion. If she were currently pregnant, the beta-hCG would be elevated, but "Uterine synechiae" is the classic "post-procedure" diagnosis tested in this context. **NEET-PG High-Yield Pearls:** * **Asherman Syndrome** is the most common cause of secondary amenorrhea where the Progesterone Challenge Test is **negative**. * **Gold Standard Investigation:** Hysteroscopy (both for diagnosis and adhesiolysis). * **Normal FSH Range:** 5–10 IU/mL. Always check FSH to differentiate between central (pituitary/hypothalamus), peripheral (ovarian), or anatomical (uterine) causes of amenorrhea.

Question 195: What is the most common cause of heterosexual development in a female at the expected age of puberty?

A. Congenital Adrenal hyperplasia
B. Pure gonadal dysgenesis
C. Polycystic ovarian syndrome (Correct Answer)
D. Complete androgen insensitivity syndrome

Explanation: **Explanation:** The question asks for the most common cause of **heterosexual development** (virilization or signs of masculinization) in a female at the **expected age of puberty**. **1. Why Polycystic Ovarian Syndrome (PCOS) is correct:** PCOS is the most common endocrinopathy in women of reproductive age. While it typically presents post-menarche, it frequently manifests during the peripubertal period with signs of hyperandrogenism such as hirsutism, acne, and irregular cycles. Because of its high prevalence (5–10% of the female population), it remains the most common cause of heterosexual pubertal development compared to rarer genetic or enzymatic disorders. **2. Why the other options are incorrect:** * **Congenital Adrenal Hyperplasia (CAH):** While a major cause of virilization, the *classical* form presents at birth with ambiguous genitalia. The *non-classical* (late-onset) form can present at puberty, but its prevalence is significantly lower than PCOS. * **Pure Gonadal Dysgenesis (46,XX or 46,XY/Swyer):** This typically presents with **sexual infantilism** (failure of pubertal development) and primary amenorrhea due to streak gonads and lack of estrogen, not virilization. * **Complete Androgen Insensitivity Syndrome (CAIS):** These individuals are genotypically male (46,XY) but phenotypically female. They present with primary amenorrhea and a "hyper-feminized" appearance (large breasts, absent pubic hair) due to androgen resistance, not heterosexual development. **Clinical Pearls for NEET-PG:** * **Most common cause of ambiguous genitalia in a newborn:** CAH (21-hydroxylase deficiency). * **Most common cause of primary amenorrhea with absent uterus:** MRKH Syndrome (46,XX) or CAIS (46,XY). * **Key PCOS Diagnostic Criteria (Rotterdam):** 1. Hyperandrogenism, 2. Oligo/anovulation, 3. Polycystic ovaries on ultrasound (2 out of 3 required).

Question 196: Hypergonadotropic hypogonadism is seen in all EXCEPT?

A. Turner syndrome
B. Down syndrome (Correct Answer)
C. Klinefelter syndrome
D. Swyer's syndrome

Explanation: ### Explanation **Hypergonadotropic hypogonadism** is a clinical state characterized by **primary gonadal failure**. Because the ovaries or testes are unable to produce sex steroids (Estrogen/Testosterone), the negative feedback loop is lost, leading to compensatory **elevated levels of gonadotropins (FSH and LH)**. #### Why Down Syndrome is the Correct Answer **Down Syndrome (Trisomy 21)** is primarily a chromosomal disorder causing intellectual disability and multisystem structural anomalies. While it can be associated with subfertility (especially in males due to cryptorchidism or oligospermia), it is **not** a classic cause of hypergonadotropic hypogonadism. Most females with Down syndrome have normal gonadotropin levels and are capable of menstruation and pregnancy. #### Analysis of Other Options (Causes of Primary Gonadal Failure) * **Turner Syndrome (45, XO):** The most common cause of primary amenorrhea. Accelerated atresia of oocytes leads to "streak ovaries," resulting in low estrogen and high FSH/LH. * **Klinefelter Syndrome (47, XXY):** The most common cause of primary hypogonadism in males. Dysgenesis of seminiferous tubules and Leydig cell dysfunction lead to low testosterone and high FSH/LH. * **Swyer’s Syndrome (46, XY Pure Gonadal Dysgenesis):** Patients have a female phenotype but possess non-functional streak gonads due to SRY gene mutations. Lack of gonadal hormones leads to elevated gonadotropins. #### NEET-PG High-Yield Pearls * **Gold Standard Investigation:** For any suspected hypergonadotropic hypogonadism, **Karyotyping** is the definitive next step. * **FSH Levels:** An FSH level **>40 IU/L** is generally diagnostic of primary gonadal failure/menopause. * **Swyer’s Syndrome vs. AIS:** In Swyer’s, the uterus is **present** (no AMH produced by streak gonads), whereas in Androgen Insensitivity Syndrome (AIS), the uterus is **absent**. * **Turner Syndrome:** Look for "Shield chest," "Webbed neck," and "Coarctation of aorta" in clinical vignettes.

Question 197: Which hormone is decreased in Polycystic Ovarian Disease (PCOD)?

A. Androgens
B. Progesterone (Correct Answer)
C. Estrone
D. Insulin

Explanation: **Explanation:** In **Polycystic Ovarian Disease (PCOD/PCOS)**, the fundamental pathophysiology is **chronic anovulation**. Under normal physiological conditions, progesterone is produced by the **corpus luteum** following ovulation. Since patients with PCOD fail to ovulate regularly, the corpus luteum does not form, leading to a state of **progesterone deficiency**. This results in "unopposed estrogen" action on the endometrium, increasing the risk of endometrial hyperplasia and dysfunctional uterine bleeding. **Analysis of Options:** * **A. Androgens (Increased):** Hyperandrogenism is a hallmark of PCOD. Excessive LH stimulation of ovarian theca cells leads to increased production of testosterone and androstenedione, causing hirsutism and acne. * **C. Estrone (Increased):** While estradiol levels may be normal or slightly low, **Estrone (E1)** is significantly elevated. This occurs due to the peripheral conversion of excess androgens into estrone within adipose tissue. * **D. Insulin (Increased):** Peripheral insulin resistance is a key feature of PCOD. This leads to **compensatory hyperinsulinemia**, which further stimulates the ovaries to produce more androgens and decreases Sex Hormone Binding Globulin (SHBG) levels. **NEET-PG High-Yield Pearls:** * **LH:FSH Ratio:** Classically elevated to **>2:1 or 3:1** (due to increased GnRH pulse frequency). * **SHBG:** Decreased in PCOD, leading to higher levels of "free" (biologically active) testosterone. * **Gold Standard for Diagnosis:** Rotterdam Criteria (requires 2 out of 3: Oligo/anovulation, Hyperandrogenism, and Polycystic ovaries on ultrasound). * **Long-term Risk:** Increased risk of **Endometrial Carcinoma** due to chronic unopposed estrogen.

Question 198: Which of the following is NOT typically associated with Polycystic Ovary Syndrome?

A. Hypertension (Correct Answer)
B. Diabetes Mellitus
C. Obesity
D. Hirsutism

Explanation: **Explanation:** Polycystic Ovary Syndrome (PCOS) is primarily a metabolic and endocrine disorder characterized by hyperandrogenism, insulin resistance, and ovulatory dysfunction. While PCOS is a significant risk factor for developing metabolic syndrome, **Hypertension (Option A)** is not a diagnostic feature or a typical direct association of the syndrome itself. While long-term metabolic complications may eventually lead to cardiovascular issues, hypertension is not considered a hallmark of PCOS in the same way as the other options. **Why the other options are incorrect:** * **Diabetes Mellitus (Option B):** Insulin resistance is a core pathophysiological mechanism in PCOS. This leads to compensatory hyperinsulinemia, significantly increasing the risk of Impaired Glucose Tolerance and Type 2 Diabetes Mellitus. * **Obesity (Option C):** Approximately 50-80% of women with PCOS are obese. Adipose tissue exacerbates insulin resistance and contributes to the peripheral conversion of androgens to estrogens, worsening the hormonal imbalance. * **Hirsutism (Option D):** This is a clinical manifestation of hyperandrogenism (excessive terminal hair growth in a male-pattern distribution). It is one of the three criteria in the **Rotterdam Criteria** used to diagnose PCOS. **NEET-PG High-Yield Pearls:** * **Rotterdam Criteria (2 out of 3):** 1. Oligo/Anovulation, 2. Clinical/Biochemical Hyperandrogenism, 3. Polycystic ovaries on Ultrasound (≥12 follicles or volume >10cc). * **LH:FSH Ratio:** Classically elevated (3:1), though no longer a diagnostic requirement. * **Gold Standard Treatment for Infertility:** Letrozole (Aromatase inhibitor) is now preferred over Clomiphene Citrate. * **Hirsutism Scoring:** Modified Ferriman-Gallwey score (Score ≥8 is significant in Indians).

Question 199: What is the primary source of progesterone during a normal menstrual cycle?

A. Corpus luteum (Correct Answer)
B. Ovarian stroma
C. Surface epithelium of the ovary
D. None of the above

Explanation: **Explanation:** The correct answer is **A. Corpus luteum.** **1. Why the Corpus Luteum is correct:** During the luteal phase of the menstrual cycle, following ovulation, the remnants of the Graafian follicle undergo a process called **luteinization**. Under the influence of Luteinizing Hormone (LH), the granulosa and theca cells transform into the corpus luteum. This temporary endocrine structure becomes the primary factory for **progesterone** production. Progesterone is essential for preparing the endometrium for implantation (secretory phase) and maintaining early pregnancy until the placenta takes over (luteal-placental shift). **2. Why other options are incorrect:** * **Ovarian stroma:** This consists of connective tissue, blood vessels, and interstitial cells. While the stroma produces small amounts of androgens (like androstenedione), it is not the primary source of progesterone. * **Surface epithelium:** This is a single layer of cuboidal cells covering the ovary. Its primary role is structural and regenerative; it does not have an endocrine function related to progesterone secretion. **3. NEET-PG High-Yield Pearls:** * **Peak Progesterone:** Progesterone levels peak approximately **7 days after ovulation** (Day 21 of a 28-day cycle). * **The Luteal-Placental Shift:** The corpus luteum is the sole source of progesterone for the first **7–9 weeks** of pregnancy. After this, the placenta (syncytiotrophoblast) takes over. * **Hormonal Trigger:** LH is the primary hormone that maintains the corpus luteum in a non-pregnant cycle, while **hCG** (human Chorionic Gonadotropin) rescues it if fertilization occurs. * **Diagnostic Value:** A serum progesterone level >3 ng/mL is often used as biochemical evidence that ovulation has occurred.

Question 200: GnRH analogues are useful in all of the following conditions except:

A. Endometriosis
B. Hyperprolactinemia (Correct Answer)
C. Precocious puberty
D. Menstrual disturbances

Explanation: **Explanation:** GnRH (Gonadotropin-Releasing Hormone) analogues work by initially stimulating and then paradoxically down-regulating the pituitary GnRH receptors. This leads to a state of **hypogonadotropic hypogonadism** (pseudomenopause), which is the therapeutic goal in estrogen-dependent conditions. **Why Hyperprolactinemia is the Correct Answer:** Hyperprolactinemia is primarily managed with **Dopamine agonists** (e.g., Cabergoline, Bromocriptine). Dopamine acts as the natural prolactin-inhibiting factor. GnRH analogues have no physiological role in suppressing prolactin secretion; in fact, hyperprolactinemia itself causes infertility by suppressing GnRH pulsatility. **Analysis of Other Options:** * **Endometriosis:** GnRH analogues are a gold-standard medical treatment. By inducing a hypoestrogenic state, they cause atrophy of ectopic endometrial tissue and provide symptomatic relief from pelvic pain. * **Precocious Puberty:** In Central Precocious Puberty, continuous GnRH analogues are used to desensitize the pituitary, stopping the premature secretion of LH/FSH and preventing early epiphyseal closure (preserving adult height). * **Menstrual Disturbances:** They are used to manage heavy menstrual bleeding in conditions like **Uterine Fibroids** (to shrink the tumor before surgery) and **Dysfunctional Uterine Bleeding (DUB)** refractory to other medical therapies. **NEET-PG High-Yield Pearls:** * **Flare Effect:** Initial administration causes a transient rise in gonadotropins. To prevent this in conditions like prostate cancer, anti-androgens are co-administered. * **Add-back Therapy:** To prevent bone mineral density loss and vasomotor symptoms during long-term GnRH analogue use (usually >6 months), low-dose estrogen/progesterone is "added back." * **Other Uses:** IVF (to prevent premature LH surge), Polycystic Ovary Syndrome (PCOS), and thinning the endometrium before hysteroscopic resection.

Practice by Chapter

Hypothalamic-Pituitary-Ovarian Axis

Practice Questions

Disorders of Puberty

Practice Questions

Hirsutism and Virilization

Practice Questions

Primary Ovarian Insufficiency

Practice Questions

Hyperprolactinemia

Practice Questions

Hyperandrogenism

Practice Questions

Metabolic Dysfunction in PCOS

Practice Questions

Neuroendocrine Disorders and Reproduction

Practice Questions

Hormonal Evaluation and Testing

Practice Questions

Ovulation Induction

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