Reproductive Endocrinology Practice Questions

Q: Which of the following is an ovarian cause of hirsutism?

Polycystic Ovarian Disease (PCOD). **Explanation:** **Polycystic Ovarian Disease (PCOD/PCOS)** is the most common cause of hirsutism in women. The underlying pathophysiology involves an increase in the pulse frequency of Gonadotropin-Releasing Hormone (GnRH), leading to an elevated **LH:FSH ratio**. High levels of Luteinizing Hormone (LH) stimulate the ovarian **theca cells** to produce excess androgens (androstenedione and testosterone). These androgens are converted to dihydrotestosterone (DHT) in the skin, which stimulates terminal hair growth in male-pattern areas. **Analysis of Incorrect Options:** * **Ovarian Carcinoma:** Most ovarian cancers (like epithelial tumors) are non-functional and do not produce hormones. While specific "Sertoli-Leydig cell tumors" can cause virilization, they are rare compared to PCOD. * **Dysgerminoma:** This is a germ cell tumor that typically produces **LDH** or occasionally hCG. It does not produce androgens and therefore does not cause hirsutism. * **Endometriotic Cyst:** Also known as a "chocolate cyst," this is a benign condition where endometrial tissue grows on the ovary. It is associated with pelvic pain and infertility, not androgen excess. **High-Yield Clinical Pearls for NEET-PG:** * **Ferriman-Gallwey Score:** Used to clinically quantify hirsutism (Score ≥8 is significant). * **Hyperthecosis:** A more severe form of PCOD characterized by nests of luteinized theca cells, often leading to frank virilization. * **HAIR-AN Syndrome:** A subset of PCOS characterized by **H**irsutism, **A**canthosis nigricans, **I**nsulin **R**esistance, and **A**ndrogen excess. * **First-line Treatment:** Combined Oral Contraceptive Pills (OCPs) are the first-line medical management for hirsutism in PCOS.

Q: The Ferriman-Gallwey scoring system is used to quantify which of the following?

Hirsutism. The **Modified Ferriman-Gallwey (mFG) score** is the gold standard clinical tool used to quantify **Hirsutism**—the presence of excess terminal hair in females in a male-pattern distribution. ### Why Hirsutism is Correct Hirsutism is a clinical sign of androgen excess. The mFG system evaluates **9 androgen-sensitive body areas** (upper lip, chin, chest, upper back, lower back, upper abdomen, lower abdomen, upper arms, and thighs). Each area is scored from 0 (no hair) to 4 (frankly virile), with a maximum score of 36. In most populations, a score of **≥8** is considered diagnostic of hirsutism, though some guidelines suggest ≥3 or ≥5 depending on ethnicity. ### Why Other Options are Incorrect * **A. Hypertrichosis:** This refers to generalized excessive hair growth that is **not** androgen-dependent (e.g., due to metabolic disorders or drugs like Minoxidil). It affects non-sexual areas and is not measured by the mFG score. * **B. Galactorrhea:** This is spontaneous milk secretion unrelated to childbirth, usually due to hyperprolactinemia. It is evaluated via serum prolactin levels and breast examination. * **C. Virilization:** This is a more severe state of masculinization (clitoromegaly, deepening of voice, male-pattern baldness). While hirsutism is a component, the mFG score specifically measures hair, not these broader systemic changes. ### High-Yield NEET-PG Pearls * **Most common cause of Hirsutism:** Polycystic Ovary Syndrome (PCOS). * **Drug of choice for Hirsutism:** Combined Oral Contraceptive Pills (COCPs) are first-line; Spironolactone is the most common anti-androgen added if needed. * **Rapid onset hirsutism + Virilization:** Always suspect an androgen-secreting tumor (Adrenal or Ovarian). * **Ethnicity matters:** The mFG cutoff is lower in Asian women (≥3) compared to Caucasian or Hispanic women.

Q: All of the following assist in predicting ovulation except:

Serum progesterone in follicular phase. To predict or confirm ovulation, we look for physiological changes driven by the shift from estrogen dominance to progesterone dominance. **Explanation of the Correct Answer:** **Option C (Serum progesterone in follicular phase)** is the correct answer because progesterone levels are **low ( 3 ng/mL suggests ovulation has occurred. **Analysis of Other Options:** * **Basal Body Temperature (BBT):** Progesterone is thermogenic. A rise of 0.4°F to 1.0°F (biphasic pattern) occurs *after* ovulation. While it confirms ovulation retrospectively, monitoring the chart helps predict future cycles. * **Cervical Mucus:** Under estrogen influence (pre-ovulatory), mucus becomes thin, profuse, watery, and shows **spinnbarkeit** (stretchability) and **ferning**. These changes peak just before ovulation (the "peak mucus day"). * **Endometrial Biopsy:** Historically used to confirm ovulation by identifying a **secretory endometrium** (due to progesterone). If performed on Day 21-23, it confirms that ovulation has already taken place. **NEET-PG High-Yield Pearls:** * **Gold Standard for timing ovulation:** Serial Transvaginal Ultrasound (TVS) to monitor follicular size (disappearance of follicle/collapse). * **Best biochemical predictor:** Urinary LH surge (ovulation occurs 24–36 hours after the surge). * **Spinnbarkeit Effect:** Maximum stretchability (10–12 cm) occurs at ovulation. * **Mittelschmerz sign:** Pelvic pain experienced mid-cycle due to follicular rupture.

Q: In women with Polycystic Ovarian Disease (PCOD) and irregular menstrual cycles, what is the effect of combined oral contraceptive pills?

Increase sex hormone-binding globulin. **Explanation:** Combined Oral Contraceptive Pills (COCPs) are the first-line management for menstrual irregularities and hirsutism in PCOD. The primary mechanism involves the **estrogen component (Ethinyl Estradiol)**, which stimulates the liver to **increase the production of Sex Hormone-Binding Globulin (SHBG)**. Increased SHBG levels lead to a higher binding capacity for circulating androgens, thereby **decreasing the levels of Free Testosterone**. This reduction in free androgens is the key mechanism by which COCPs improve clinical symptoms like acne and hirsutism. **Analysis of Incorrect Options:** * **B. Cause endometrial hyperplasia:** COCPs actually **protect** against endometrial hyperplasia. In PCOD, "unopposed estrogen" causes the lining to thicken; the progestogen in COCPs antagonizes this effect, inducing regular withdrawal bleeds and reducing the risk of endometrial carcinoma. * **C. Increase luteinizing hormone:** COCPs exert negative feedback on the pituitary, **decreasing LH and FSH** secretion. This suppresses ovarian androgen production. * **D. Increase insulin:** COCPs do not increase insulin; in fact, some older formulations may slightly worsen insulin resistance, though low-dose pills are generally considered metabolic-neutral. **NEET-PG High-Yield Pearls:** * **DOC for Hirsutism in PCOD:** COCPs (specifically those containing anti-androgenic progestins like Cyproterone acetate or Drospirenone). * **Rotterdam Criteria:** Diagnosis requires 2 out of 3: Oligo/anovulation, Clinical/Biochemical hyperandrogenism, and Polycystic ovaries on USG. * **LH:FSH Ratio:** Classically >2:1 or 3:1 (though no longer a primary diagnostic criterion).

Q: Hirsutism is seen in all of the following conditions EXCEPT:

Testicular feminizing syndrome. **Explanation:** The core concept in this question is the requirement of **androgen receptors** for the manifestation of hirsutism. Hirsutism is defined as the presence of terminal hair in females in a male-pattern distribution, driven by excess androgens acting on sensitive hair follicles. **Why Option C is correct:** **Testicular Feminizing Syndrome (Complete Androgen Insensitivity Syndrome - CAIS)** is characterized by a 46,XY karyotype with a mutation in the androgen receptor gene. Although these individuals have high levels of circulating testosterone (produced by undescended testes), their end-organ receptors are completely non-functional. Without functioning receptors, androgens cannot stimulate hair follicles; consequently, these patients typically have **absent or scanty pubic and axillary hair** and no hirsutism. **Why the other options are incorrect:** * **A. Stein-Leventhal Syndrome (PCOS):** The most common cause of hirsutism. It involves hyperandrogenism due to increased LH stimulation of ovarian theca cells. * **B. Cushing Syndrome:** Excess ACTH or cortisol leads to increased production of adrenal androgens (like DHEAS), resulting in hirsutism. * **D. Congenital Adrenal Hyperplasia (CAH):** Specifically the 21-hydroxylase deficiency form, where a "shunting" of precursors occurs, leading to massive overproduction of adrenal androgens. **NEET-PG High-Yield Pearls:** * **Ferriman-Gallwey Score:** Used to quantify hirsutism (Score ≥8 is significant in Indians). * **CAIS Clinical Triad:** Primary amenorrhea, 46,XY karyotype, and a blind-ending vagina with absent uterus/ovaries. * **Drug-induced Hirsutism:** Phenytoin, Cyclosporine, and Minoxidil (though these often cause generalized hypertrichosis rather than patterned hirsutism). * **Rapid onset hirsutism** with virilization should always raise suspicion of an androgen-secreting tumor (Ovarian or Adrenal).

Q: A 15-year-old girl complains of failure to attain menarche. Her height is 4 feet. She has not yet developed secondary sexual characteristics. Ultrasound shows a uterus and vagina. FSH and LH levels are high. What is the best step in confirming the diagnosis?

Perform a Karyotype. ### Explanation This clinical scenario describes a case of **Primary Amenorrhea** with **Hypergonadotropic Hypogonadism** (High FSH/LH). **1. Why Karyotyping is the Correct Answer:** The patient presents with the classic triad of **Turner Syndrome (45,XO)**: * **Short Stature:** (Height 4 feet). * **Sexual Infantilism:** Failure of secondary sexual characteristics due to streak ovaries (gonadal dysgenesis). * **Hypergonadotropic Hypogonadism:** Low estrogen levels (due to ovarian failure) result in a lack of negative feedback, causing the pituitary to secrete high levels of FSH and LH. In any patient with primary amenorrhea, short stature, and high gonadotropins, **Karyotyping** is the gold standard and essential next step to confirm the chromosomal abnormality and rule out mosaics. **2. Why Other Options are Incorrect:** * **CT Scan:** Not indicated. While it could visualize pelvic structures, Ultrasound has already confirmed the presence of a uterus and vagina. It does not provide a genetic diagnosis. * **Buccal Smear:** This looks for Barr bodies. While it was used historically, it is unreliable for diagnosing Turner syndrome (especially mosaicism) and has been replaced by formal karyotyping. * **Progesterone Withdrawal Test:** This tests for endogenous estrogen and outflow tract patency. In this patient, estrogen is already known to be low (lack of secondary sexual characteristics), so the test would be negative and provide no new diagnostic information. ### Clinical Pearls for NEET-PG: * **Most common cause of Primary Amenorrhea:** Turner Syndrome (45,XO). * **Most common cause of Delayed Puberty with High FSH:** Turner Syndrome. * **Mullerian Structures:** In Turner Syndrome, the uterus and vagina are **present** because there is no Anti-Mullerian Hormone (AMH) produced (no testes). * **High-Yield Association:** Always screen Turner patients for **Coarctation of the Aorta** and **Bicuspid Aortic Valve**.

Q: Which of the following tests is NOT helpful in determining the occurrence of ovulation in a woman?

Estradiol levels. **Explanation:** The determination of ovulation relies on identifying physiological changes triggered by the **luteal phase** (post-ovulatory) or the physical disappearance of a follicle. **Why Estradiol (D) is the correct answer:** Estradiol levels peak *before* ovulation to trigger the LH surge and remain elevated during the luteal phase. However, a high estradiol level only indicates follicular maturity; it does not guarantee that the follicle has ruptured. Because estradiol fluctuates throughout the cycle and does not provide definitive proof of follicle release, it is not a reliable marker for confirming that ovulation has actually occurred. **Analysis of Incorrect Options:** * **Ultrasound (USG):** Serial transvaginal scans (Follicular monitoring) are the gold standard. Ovulation is confirmed by the sudden disappearance of a mature follicle, the appearance of internal echoes (corpus luteum formation), or free fluid in the Pouch of Douglas. * **Progesterone levels:** Progesterone is secreted by the corpus luteum *after* ovulation. A mid-luteal phase (Day 21) serum progesterone level **>3 ng/mL** is a reliable indicator that ovulation has taken place. * **Basal Body Temperature (BBT):** Progesterone has a thermogenic effect on the hypothalamus. A rise in BBT by 0.4–1.0°F in the second half of the cycle (biphasic curve) indicates ovulation. **NEET-PG High-Yield Pearls:** * **Best time for Progesterone test:** Day 21 of a 28-day cycle (Mid-luteal phase). * **Best indicator of "Imminent" Ovulation:** LH Surge (detected in urine or blood). * **Gold Standard for Ovulation:** Ultrasound or Pregnancy. * **Endometrial Biopsy:** If performed, a "secretory endometrium" confirms ovulation (historically important, now rarely used for this purpose).

Q: A 19-year-old patient presents with primary amenorrhea. She has well-developed breasts and axillary and pubic hair. The uterus and vagina are absent. What is the most likely diagnosis?

Mullerian agenesis. **Explanation:** The clinical presentation of **primary amenorrhea** in a patient with **well-developed secondary sexual characteristics** (breasts and pubic hair) but an **absent uterus and vagina** is the classic hallmark of **Mullerian Agenesis** (Mayer-Rokitansky-Küster-Hauser or MRKH syndrome). **1. Why Mullerian Agenesis is Correct:** * **Breast Development:** Indicates a functional Hypothalamic-Pituitary-Ovarian (HPO) axis. The ovaries are derived from the genital ridge (not the Mullerian ducts), so they function normally, producing estrogen for breast development. * **Pubic/Axillary Hair:** Indicates normal adrenal/ovarian androgen production and functional androgen receptors. * **Absent Uterus/Vagina:** The Mullerian ducts fail to develop, leading to the absence of the fallopian tubes, uterus, and upper 2/3rd of the vagina. * **Karyotype:** 46, XX. **2. Why Other Options are Incorrect:** * **XYY Syndrome:** These individuals are phenotypically male, usually tall, and do not present with primary amenorrhea. * **Gonadal Dysgenesis (e.g., Turner Syndrome):** Patients typically have "streak ovaries," leading to estrogen deficiency. This results in **absent breast development** and elevated gonadotropins (Hypergonadotropic hypogonadism). * **Klinefelter’s Syndrome (47, XXY):** These are phenotypic males with small testes, gynecomastia, and infertility; they do not present with a female phenotype or primary amenorrhea. **Clinical Pearls for NEET-PG:** * **Differential Diagnosis:** Always differentiate MRKH from **Androgen Insensitivity Syndrome (AIS)**. In AIS (46, XY), there is **absent/scanty** pubic and axillary hair due to androgen resistance. * **Associated Anomalies:** 30-40% of MRKH patients have **renal anomalies** (e.g., renal agenesis, ectopic kidney). Always order a Renal Ultrasound. * **Ovaries:** In MRKH, ovaries are normal and located intra-abdominally; ovulation occurs normally.

Q: A patient presents with a 46, XY chromosomal pattern, presence of a uterus and cervix, but poorly developed breasts. What is the most likely diagnosis?

Swyer syndrome. **Explanation:** The key to solving this question lies in the discordance between the genotype (**46, XY**) and the internal anatomy (**presence of uterus/cervix**). **1. Why Swyer Syndrome is Correct:** Swyer syndrome (Pure Gonadal Dysgenesis) is caused by a mutation in the **SRY gene** or other genes involved in testis determination. Because the testes fail to develop (forming "streak gonads"), there is **no production of Anti-Müllerian Hormone (AMH)** or testosterone. In the absence of AMH, the Müllerian ducts do not regress, leading to the development of a **uterus, cervix, and fallopian tubes**. Since there is no estrogen production from the streak gonads, the patient presents with primary amenorrhea and **poorly developed breasts** (delayed puberty). **2. Why the other options are incorrect:** * **Turner Syndrome (45, XO):** While these patients have streak gonads and a uterus, their genotype is 45, XO, not 46, XY. * **Androgen Insensitivity Syndrome (AIS):** These patients are 46, XY, but they have functioning testes that produce AMH. Therefore, the **uterus and cervix are absent**. They typically have well-developed breasts due to the peripheral conversion of testosterone to estrogen. * **Klinefelter Syndrome (47, XXY):** These patients have a male phenotype with small testes and gynecomastia, not a female phenotype with a uterus. **High-Yield Clinical Pearls for NEET-PG:** * **Müllerian Structures:** Present in Swyer and Turner; Absent in AIS and MRKH syndrome. * **Gonadectomy:** In Swyer syndrome, there is a high risk (approx. 25-30%) of developing **Gonadoblastoma**; therefore, prophylactic gonadectomy is indicated as soon as the diagnosis is made. * **Height:** Patients with Swyer syndrome are typically of normal or tall stature (unlike the short stature in Turner syndrome).

Question 1

Which of the following is an ovarian cause of hirsutism?

Accepted Answer

Polycystic Ovarian Disease (PCOD)

Answer

Ovarian carcinoma

Answer

Dysgerminoma

Answer

Endometriotic cyst

Question 2

The Ferriman-Gallwey scoring system is used to quantify which of the following?

Accepted Answer

Hirsutism

Answer

Hypertrichosis

Answer

Galactorrhea

Answer

Virilization

Question 3

All of the following assist in predicting ovulation except:

Accepted Answer

Serum progesterone in follicular phase

Answer

Basal body temperature

Answer

Cervical mucus

Answer

Endometrial biopsy

Question 4

All of the following are true regarding folliculogenesis and ovulation EXCEPT?

Accepted Answer

Elevated and static levels of estradiol are essential for ovulation.

Answer

Follicular development and differentiation takes about 85 days.

Answer

AMH supports monofollicular development.

Answer

The first phase of follicular growth is gonadotropin insensitive.

Question 5

In women with Polycystic Ovarian Disease (PCOD) and irregular menstrual cycles, what is the effect of combined oral contraceptive pills?

Accepted Answer

Increase sex hormone-binding globulin

Answer

Cause endometrial hyperplasia

Answer

Increase luteinizing hormone

Answer

Increase insulin

Question 6

Hirsutism is seen in all of the following conditions EXCEPT:

Accepted Answer

Testicular feminizing syndrome

Answer

Stein leventhal syndrome

Answer

Cushing syndrome

Answer

Congenital adrenal hyperplasia

Question 7

A 15-year-old girl complains of failure to attain menarche. Her height is 4 feet. She has not yet developed secondary sexual characteristics. Ultrasound shows a uterus and vagina. FSH and LH levels are high. What is the best step in confirming the diagnosis?

Accepted Answer

Perform a Karyotype

Answer

Perform a CT scan

Answer

Perform a buccal smear

Answer

Perform a progesterone withdrawal test

Question 8

Which of the following tests is NOT helpful in determining the occurrence of ovulation in a woman?

Accepted Answer

Estradiol levels

Answer

Ultrasound (USG)

Answer

Progesterone levels

Answer

Basal body temperature changes

Question 9

A 19-year-old patient presents with primary amenorrhea. She has well-developed breasts and axillary and pubic hair. The uterus and vagina are absent. What is the most likely diagnosis?

Accepted Answer

Mullerian agenesis

Answer

XYY syndrome

Answer

Gonadal dysgenesis

Answer

Klinefelter's syndrome

Question 10

A patient presents with a 46, XY chromosomal pattern, presence of a uterus and cervix, but poorly developed breasts. What is the most likely diagnosis?

Accepted Answer

Swyer syndrome

Answer

Turner syndrome

Answer

Androgen insensitivity syndrome

Answer

Klinefelter syndrome

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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