Reproductive Endocrinology Practice Questions

Q: Which of the following is true about Polycystic Ovary Syndrome (PCOS)?

Hirsutism. **Explanation:** Polycystic Ovary Syndrome (PCOS) is a complex endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology (Rotterdam Criteria). **Why Hirsutism is Correct:** Hirsutism (excessive terminal hair growth in a male-pattern distribution) is the most common clinical manifestation of **hyperandrogenism** in PCOS. It occurs due to increased production of ovarian androgens (primarily testosterone) and increased 5α-reductase activity in hair follicles, which converts testosterone to the more potent dihydrotestosterone (DHT). **Analysis of Incorrect Options:** * **A. High FSH/LH ratio:** In PCOS, there is a **reversed ratio**. There is a characteristic **increase in LH** and low/normal FSH, leading to an **LH:FSH ratio > 2:1 or 3:1**. High LH stimulates theca cells to produce androgens. * **B. Unilateral large ovarian cyst:** PCOS typically presents with **bilateral** enlargement of ovaries containing multiple small follicles (usually 2–9 mm in diameter), often described as a "string of pearls" appearance. It is not characterized by a single large cyst. * **D. High SHBG:** PCOS is associated with **low Sex Hormone Binding Globulin (SHBG)** levels. Hyperinsulinemia (insulin resistance) suppresses hepatic SHBG production, which increases the fraction of **Free Testosterone**, worsening hirsutism and acne. **High-Yield Clinical Pearls for NEET-PG:** * **Gold Standard Criteria:** Rotterdam Criteria (requires 2 out of 3: Clinical/biochemical hyperandrogenism, Oligo/anovulation, and Polycystic ovaries on USG). * **Metabolic Link:** Strong association with **Insulin Resistance** and Acanthosis Nigricans. * **First-line Treatment:** Weight loss and lifestyle modification. For hirsutism, Combined Oral Contraceptive Pills (COCPs) are the first-line medical therapy. * **Drug of Choice for Infertility:** Letrozole (Aromatase inhibitor) is now preferred over Clomiphene Citrate.

Q: A 17-year-old female presents with primary amenorrhea, well-developed breasts, and scanty axillary and pubic hair. Ultrasonography shows absence of the uterus and vagina. The patient's genotype is most likely to be:

46 XY. ### Explanation The patient presents with a classic case of **Androgen Insensitivity Syndrome (AIS)**, formerly known as Testicular Feminization Syndrome. **1. Why 46, XY is Correct:** In AIS, the individual has a **46, XY** genotype and functioning testes (usually intra-abdominal). These testes produce Testosterone and **Anti-Müllerian Hormone (AMH)**. * **Absent Uterus/Vagina:** AMH causes regression of Müllerian structures (uterus, fallopian tubes, and upper 1/3rd of the vagina). * **Breast Development:** Due to end-organ resistance to androgens, testosterone is peripherally converted to estrogen (aromatization), leading to female secondary sexual characteristics. * **Scanty Hair:** Pubic and axillary hair growth is androgen-dependent; since receptors are non-functional, hair is sparse or absent. **2. Why Other Options are Incorrect:** * **46, XX (Müllerian Agenesis/MRKH):** While MRKH also presents with primary amenorrhea and an absent uterus, these patients have **normal** female-pattern pubic and axillary hair because their androgen receptors function normally. * **45, XO (Turner Syndrome):** Characterized by streak ovaries, short stature, and **absent** breast development (due to low estrogen). The uterus is present but infantile. * **47, XXY (Klinefelter Syndrome):** These individuals have a male phenotype, small firm testes, and gynecomastia, but they do not present with primary amenorrhea or absent female internal organs. **Clinical Pearls for NEET-PG:** * **AIS vs. MRKH:** The "Differentiating Factor" is the hair. **AIS = Scanty hair**; **MRKH = Normal hair**. * **Gonadectomy:** In AIS, testes should be removed *after* puberty (to allow natural breast development) to prevent malignancy (Gonadoblastoma/Dysgerminoma). * **Vagina in AIS:** It is a "blind pouch" (only the lower 2/3rd derived from the urogenital sinus is present).

Q: Which of the following is NOT a risk factor for prepubertal Polycystic Ovary Syndrome (PCOS)?

Increased birth weight. **Explanation:** The correct answer is **A. Increased birth weight**. In the context of prepubertal PCOS risk factors, the association is actually with **Low Birth Weight (LBW)** followed by rapid catch-up growth, rather than increased birth weight. **Why Increased Birth Weight is the Correct Answer (The "Not" Factor):** Intrauterine growth restriction (IUGR) or LBW leads to fetal programming that predisposes the individual to insulin resistance and hyperinsulinemia later in life. When these infants experience rapid weight gain in early childhood, it triggers a cascade of metabolic changes that increase the risk of developing PCOS. Large-for-gestational-age (LGA) infants are generally not the primary risk group for prepubertal PCOS. **Analysis of Incorrect Options:** * **Premature Adrenarche:** This is a classic precursor to PCOS. Early activation of the adrenal glands (elevated DHEAS) leads to early pubic hair and is often associated with insulin resistance, which can evolve into full-blown PCOS. * **Obesity with Acanthosis Nigricans:** Obesity is a major driver of PCOS. Acanthosis nigricans is a clinical marker of severe insulin resistance. Insulin stimulates the ovarian theca cells to produce excess androgens, a hallmark of PCOS. * **Atypical Sexual Precocity:** Girls who present with premature pubarche or atypical development often have underlying hyperandrogenism or exaggerated adrenarche, both of which are significant risk factors for the subsequent development of PCOS. **High-Yield Clinical Pearls for NEET-PG:** * **The "Barker Hypothesis" connection:** Small-for-gestational-age (SGA) status is a known risk factor for metabolic syndrome and PCOS. * **Key Triad for Prepubertal Risk:** LBW + Rapid Catch-up Growth + Premature Adrenarche. * **Diagnostic Challenge:** PCOS is rarely diagnosed *before* menarche; however, these risk factors warrant close monitoring for early intervention.

Q: A 16-year-old girl with primary amenorrhea and a high FSH level presents with a height of 5 inches. What histological finding is most consistent with her condition?

Low or absent oocytes in the ovary. ### Explanation **Correct Answer: A. Low or absent oocytes in the ovary** **Concept:** The clinical presentation of **primary amenorrhea** associated with **short stature** and **elevated FSH (Hypergonadotropic Hypogonadism)** is a classic hallmark of **Turner Syndrome (45, XO)**. In this condition, accelerated oocyte atresia occurs during fetal development. By the time of puberty, the ovaries are replaced by fibrous tissue, known as **"streak ovaries."** Because there are no functioning follicles (oocytes) to produce estrogen, the negative feedback on the pituitary is lost, leading to compensatory high levels of FSH. **Analysis of Incorrect Options:** * **B. Corpus luteal hemorrhage:** This occurs in ovulating females, usually presenting as acute pelvic pain. A patient with primary amenorrhea and high FSH is not ovulating. * **C. Adrenal hyperplasia:** Congenital Adrenal Hyperplasia (CAH) typically presents with ambiguous genitalia or precocious puberty. While it can cause amenorrhea, it is usually associated with *low* or normal FSH due to androgen feedback and is not typically associated with the short stature/high FSH profile seen here. * **D. Pituitary apoplexy:** This is an acute clinical emergency (hemorrhage into the pituitary) that would result in *low* FSH (Hypogonadotropic Hypogonadism) due to gland destruction, not high FSH. **NEET-PG High-Yield Pearls:** * **Turner Syndrome (45, XO):** The most common cause of primary amenorrhea. * **Streak Ovaries:** Histologically characterized by fibrous stroma and an absence of primordial follicles. * **Karyotype:** Always perform a karyotype in cases of primary amenorrhea with high FSH to rule out Turner syndrome or Swyer syndrome. * **Associated Findings:** Webbed neck, shield chest, coarctation of the aorta, and bicuspid aortic valve.

Q: Which of the following hormones is elevated in polycystic ovarian syndrome?

Luteinizing hormone. **Explanation:** In Polycystic Ovarian Syndrome (PCOS), the primary endocrine hallmark is a **high frequency of GnRH pulses**, which leads to the preferential secretion of **Luteinizing Hormone (LH)** over Follicle Stimulating Hormone (FSH). This results in an **elevated LH:FSH ratio** (classically >2:1 or 3:1). The excess LH stimulates the ovarian theca cells to produce increased amounts of androgens (androstenedione and testosterone), contributing to the clinical features of hyperandrogenism and follicular arrest. **Analysis of Options:** * **Option A (17-OH Progesterone):** This is the diagnostic marker for **Congenital Adrenal Hyperplasia (CAH)**. While PCOS patients may have mild elevations in androgens, a significantly elevated 17-OHP level is used to rule out CAH, which is a common differential diagnosis for PCOS. * **Option B (FSH):** FSH levels in PCOS are typically **low or low-normal**. The relative deficiency of FSH prevents the recruitment and maturation of a dominant follicle, leading to the characteristic "string of pearls" appearance of multiple small subcapsular follicles on ultrasound. * **Option D (TSH):** Thyroid dysfunction can cause menstrual irregularities, but TSH is not typically elevated in PCOS. TSH is measured during a PCOS workup primarily to exclude hypothyroidism as a cause of oligomenorrhea. **High-Yield NEET-PG Pearls:** * **Gold Standard Diagnosis:** Rotterdam Criteria (requires 2 out of 3: Oligo/anovulation, Clinical/Biochemical hyperandrogenism, and Polycystic ovaries on USG). * **Insulin Resistance:** Hyperinsulinemia is a key driver in PCOS; it decreases Sex Hormone Binding Globulin (SHBG), further increasing free (active) testosterone levels. * **Metabolic Risk:** Patients have an increased risk of Type 2 Diabetes, Dyslipidemia, and **Endometrial Carcinoma** (due to unopposed estrogen).

Q: A 20-year-old young woman presents with a history of rapidly developing hirsutism and amenorrhea with a change in voice. To establish a diagnosis, which of the following blood tests would be most appropriate to proceed with?

Testosterone. **Explanation:** The clinical presentation of **rapidly developing hirsutism**, amenorrhea, and **virilization** (deepening of voice) in a young woman is a "red flag" for an **androgen-secreting tumor** (ovarian or adrenal). **1. Why Testosterone is the Correct Answer:** In cases of rapid-onset virilization, the first step is to differentiate between common causes like PCOS and rare but serious causes like tumors. **Serum Testosterone** is the most appropriate initial investigation. A testosterone level **>200 ng/dL** is highly suggestive of an ovarian androgen-secreting tumor (e.g., Sertoli-Leydig cell tumor). While PCOS causes hirsutism, it is typically slow-onset and rarely causes voice changes or clitoromegaly. **2. Why Other Options are Incorrect:** * **17-hydroxyprogesterone:** This is the screening test for **Late-onset (Non-classic) Congenital Adrenal Hyperplasia (CAH)**. While CAH causes hirsutism, it usually presents with a more chronic course rather than rapid virilization. * **DHEA/DHEAS:** DHEAS is a marker for **adrenal** sources of androgens. While it would be checked if an adrenal tumor is suspected (levels >7000 mcg/dL), Testosterone is the broader initial screen for virilization. * **LH/FSH Estimation:** These are used to diagnose PCOS (LH:FSH ratio >2:1) or Premature Ovarian Failure. They do not help in identifying the source of rapid virilization. **Clinical Pearls for NEET-PG:** * **Rapid onset + Virilization** = Think Malignancy/Tumor. * **Slow onset + Obesity + Irregular periods** = Think PCOS. * **Testosterone >200 ng/dL:** Suspect Ovarian Tumor (Sertoli-Leydig). * **DHEAS >7000 mcg/dL:** Suspect Adrenal Tumor (Adrenocortical Carcinoma). * **Ferriman-Gallwey Score:** Used to clinically quantify hirsutism (Score ≥8 is significant).

Q: A 16-year-old female presents with primary amenorrhea and bilateral inguinal hernias. She has normal sexual development with no pubic hair. Ultrasound shows no uterus and ovaries, and a blind vagina. What is the most likely diagnosis?

Androgen insensitivity syndrome. **Explanation:** The clinical presentation points toward **Androgen Insensitivity Syndrome (AIS)**, a condition where a genotypic male (46, XY) has a functional resistance to androgens. **Why AIS is the correct answer:** 1. **Absent Pubic/Axillary Hair:** This is the "hallmark" sign. Despite having testes that produce testosterone, the lack of androgen receptors prevents the development of sexual hair. 2. **Blind Vagina & Absent Uterus:** Testes produce **Anti-Müllerian Hormone (AMH)**, which causes regression of Müllerian structures (uterus, fallopian tubes, upper vagina). 3. **Inguinal Hernias:** These often contain the undescended testes, a common presentation in phenotypically female adolescents with AIS. 4. **Normal Breast Development:** Peripheral conversion of testosterone to estrogen leads to excellent breast development (often better than in Müllerian agenesis). **Why other options are incorrect:** * **Müllerian Agenesis (MRKH Syndrome):** While these patients also have a blind vagina and absent uterus, they have a **46, XX** karyotype with normal ovaries. Consequently, they have **normal pubic and axillary hair** (since their androgen receptors work fine). * **Turner’s Syndrome (45, XO):** Characterized by "streak ovaries," high FSH, short stature, and webbed neck. These patients have a uterus and vagina but lack secondary sexual characteristics (B1, P1). * **STAR Syndrome:** A rare genetic condition involving syndactyly and renal issues; it does not fit this classic endocrine profile. **NEET-PG High-Yield Pearls:** * **Karyotype:** AIS is 46, XY; MRKH is 46, XX. * **Gonadectomy:** In AIS, testes should be removed **after puberty** (to allow natural breast development) to prevent gonadoblastoma/dysgerminoma. * **Differential Shortcut:** Primary amenorrhea + Absent Uterus + **No Hair** = AIS. Primary amenorrhea + Absent Uterus + **Normal Hair** = MRKH.

Q: What is the best diagnostic method for ovulation?

Ultrasound. **Explanation:** The correct answer is **Ultrasound (Option A)**. In modern clinical practice, serial transvaginal sonography (TVS)—often called **Follicular Tracking**—is considered the "gold standard" and best diagnostic method for documenting ovulation. It allows for the direct visualization of the growing dominant follicle and its subsequent disappearance or collapse (signs of ovulation), along with the appearance of free fluid in the Pouch of Douglas and the formation of the corpus luteum. **Why other options are incorrect:** * **Laparoscopy (Option B):** While it can definitively visualize the *stigma* (the site of follicular rupture) on the ovary, it is an invasive surgical procedure. It is never the first-line or "best" diagnostic choice for a physiological process like ovulation. * **Endometrial Biopsy (Option C):** This was historically used to detect a "secretory endometrium" (indicating progesterone influence). However, it is invasive, painful, and provides retrospective evidence rather than real-time diagnosis. * **Chromotubation (Option D):** This is a procedure used during laparoscopy to check the **patency of the fallopian tubes** by injecting dye (Methylene blue). It has no role in diagnosing ovulation. **NEET-PG High-Yield Pearls:** * **Most accurate/Gold Standard:** Serial Ultrasound (TVS). * **Best biochemical indicator:** Serum Progesterone levels (measured on Day 21 of a 28-day cycle). A value **>3 ng/mL** suggests ovulation; **>10 ng/mL** is ideal. * **Least reliable method:** Basal Body Temperature (BBT) due to high variability. * **LH Surge:** Occurs 24–36 hours before ovulation; this is what "ovulation predictor kits" detect in urine.

Question 1

Which of the following is true about Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Hirsutism

Answer

High FSH/LH ratio

Answer

Unilateral large ovarian cyst

Answer

High SHBG

Question 2

A 32-year-old obese woman is diagnosed with polycystic ovarian disease and has irregular menstrual cycles (8-10 menses per year). Which of the following is NOT an appropriate management step?

Accepted Answer

Administer combined oral contraceptive pills to prevent endometrial hyperplasia.

Answer

Screen for dyslipidemia, diabetes mellitus, and metabolic syndrome.

Answer

Implement lifestyle changes focusing on diet and exercise.

Answer

Promote weight loss to restore normal ovulatory cycles.

Question 3

A 17-year-old female presents with primary amenorrhea, well-developed breasts, and scanty axillary and pubic hair. Ultrasonography shows absence of the uterus and vagina. The patient's genotype is most likely to be:

Accepted Answer

46 XY

Answer

46 XX

Answer

45 XO

Answer

47 XXY

Question 4

What is the optimal time during the menstrual cycle when serum progesterone should be drawn to confirm the diagnosis of luteal phase deficiency?

Accepted Answer

Day 25

Answer

Day 18

Answer

Day 21

Answer

Day 23

Question 5

Which of the following is NOT a risk factor for prepubertal Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Increased birth weight

Answer

Premature adrenarche

Answer

Obesity with acanthosis nigricans

Answer

Atypical sexual precocity

Question 6

A 16-year-old girl with primary amenorrhea and a high FSH level presents with a height of 5 inches. What histological finding is most consistent with her condition?

Accepted Answer

Low or absent oocytes in the ovary

Answer

Corpus luteal hemorrhage

Answer

Adrenal hyperplasia

Answer

Pituitary apoplexy

Question 7

Which of the following hormones is elevated in polycystic ovarian syndrome?

Accepted Answer

Luteinizing hormone

Answer

17-OH progesterone

Answer

Follicular stimulating hormone

Answer

Thyroid stimulating hormone

Question 8

A 20-year-old young woman presents with a history of rapidly developing hirsutism and amenorrhea with a change in voice. To establish a diagnosis, which of the following blood tests would be most appropriate to proceed with?

Accepted Answer

Testosterone

Answer

17-hydroxyprogesterone

Answer

Dehydroepiandrosterone (DHEA)

Answer

Luteinizing hormone (LH) + Follicle-stimulating hormone (FSH) estimation

Question 9

A 16-year-old female presents with primary amenorrhea and bilateral inguinal hernias. She has normal sexual development with no pubic hair. Ultrasound shows no uterus and ovaries, and a blind vagina. What is the most likely diagnosis?

Accepted Answer

Androgen insensitivity syndrome

Answer

Turner's syndrome

Answer

Mullerian agenesis

Answer

STAR syndrome

Question 10

What is the best diagnostic method for ovulation?

Accepted Answer

Ultrasound

Answer

Laparoscopy

Answer

Endometrial biopsy

Answer

Chromotubation

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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