Reproductive Endocrinology Practice Questions

Q: Testicular feminization syndrome is associated with which of the following?

Primary amenorrhea. **Explanation:** **Testicular Feminization Syndrome**, now more commonly known as **Complete Androgen Insensitivity Syndrome (CAIS)**, is a condition where a genetic male (46,XY) is resistant to the action of androgens due to a defect in the androgen receptor. **Why Primary Amenorrhea is Correct:** Patients with CAIS have functioning testes (usually intra-abdominal) that produce **Anti-Müllerian Hormone (AMH)**. AMH causes the regression of all Müllerian structures, meaning the patient has **no uterus, fallopian tubes, or upper third of the vagina**. Without a uterus, menstruation cannot occur, making primary amenorrhea the hallmark clinical presentation when these individuals reach puberty. **Analysis of Incorrect Options:** * **A. 46,XX karyotype:** Incorrect. The genotype is **46,XY**. They are phenotypically female but genetically male. * **B. Presence of a vagina:** This is partially incorrect/misleading. While there is a **blind-ending vaginal pouch** (derived from the urogenital sinus), the true anatomical vagina (upper 2/3) is absent. * **D. Short stature:** Incorrect. These patients are typically **tall** or have normal height for a male, as the Y chromosome carries genes for stature and there is no estrogen-induced early epiphyseal closure. **High-Yield Clinical Pearls for NEET-PG:** * **Phenotype:** Well-developed breasts (due to peripheral conversion of testosterone to estrogen) but **absent/scanty axillary and pubic hair** (due to androgen insensitivity). * **Gonads:** Testes are present (often in the inguinal canal or abdomen) and must be removed after puberty to prevent **gonadoblastoma/dysgerminoma**. * **Hormonal Profile:** High Testosterone, high LH, and normal to slightly high FSH. * **Differential:** Differentiate from **Müllerian Agenesis (MRKH)**, where the karyotype is 46,XX and ovaries are present.

Q: The Modified Ferriman Gallway score is used to grade which of the following conditions?

Hirsutism. **Explanation:** The **Modified Ferriman-Gallway (mFG) score** is the gold standard clinical tool used to objectively quantify the severity of **Hirsutism** (Option A). **Why it is correct:** Hirsutism is defined as the presence of terminal hair in females in a male-pattern distribution. The mFG score 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 graded 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. **Why other options are incorrect:** * **Abnormal Uterine Bleeding (AUB):** This is assessed using the **PALM-COEIN** classification for etiology and the **PBAC (Pictorial Blood Loss Assessment Chart)** or Higham’s chart to quantify blood loss. * **Polycystic Ovarian Disease (PCOD/PCOS):** While hirsutism is a common symptom of PCOS, the diagnosis of PCOS itself is based on the **Rotterdam Criteria** (Hyperandrogenism, Ovulatory dysfunction, and Polycystic ovaries on ultrasound). The mFG score only measures one clinical component (hirsutism). * **Gestational Trophoblastic Neoplasia (GTN):** This is staged using the **FIGO Staging** and the **WHO Modified Prognostic Scoring System** (which uses parameters like age, antecedent pregnancy, and hCG levels). **High-Yield Clinical Pearls for NEET-PG:** * **Commonest cause of Hirsutism:** Polycystic Ovarian Syndrome (PCOS). * **Drug of choice for Hirsutism:** Combined Oral Contraceptive Pills (OCPs) are first-line; Spironolactone is the most common anti-androgen added if OCPs are insufficient. * **Rapid onset hirsutism + Virilization:** Always suspect an androgen-secreting tumor (Adrenal or Ovarian). * **Areas NOT included in mFG score:** Forearms and lower legs (these are not strictly androgen-dependent).

Q: What is the treatment for a hirsute patient with Polycystic Ovary Syndrome (PCOS)?

Ethinyl estradiol + Desogestrel. **Explanation:** The management of hirsutism in Polycystic Ovary Syndrome (PCOS) focuses on reducing circulating free testosterone and inhibiting its peripheral action. Combined Oral Contraceptive Pills (COCPs) are the first-line treatment for this purpose. **Why Option B is Correct:** Ethinyl estradiol (EE) combined with **Desogestrel** is preferred because Desogestrel is a **third-generation progestin**. Unlike older progestins, third-generation progestins have **low androgenic activity** and higher selectivity. Furthermore, the estrogen component (EE) increases the production of **Sex Hormone Binding Globulin (SHBG)** in the liver, which binds free testosterone, while the progestin component suppresses LH secretion, reducing ovarian androgen production. This dual action effectively treats hirsutism and acne. **Why Other Options are Incorrect:** * **Option A & C:** **Levonorgestrel** is a second-generation progestin. It is highly **androgenic** (derived from 19-nortestosterone) and can actually worsen hirsutism and acne by decreasing SHBG levels and binding to androgen receptors. Therefore, it is generally avoided in PCOS patients with hyperandrogenism. **High-Yield Clinical Pearls for NEET-PG:** * **Best Progestins for PCOS:** Desogestrel, Gestodene, and Norgestimate (3rd gen) or **Cyproterone acetate** and **Drospirenone** (anti-androgenic progestins). * **Timeframe:** It takes at least **6 months** of COCP therapy to see a clinical improvement in hirsutism due to the long hair growth cycle. * **Mechanism:** COCPs work by: 1) Suppressing LH (decreasing ovarian androgens), 2) Increasing SHBG (decreasing free testosterone), and 3) Inhibiting 5α-reductase activity in the skin.

Q: What is the cause for luteal phase defect?

Progesterone is inadequately secreted. **Explanation:** Luteal Phase Defect (LPD) is a clinical condition characterized by an endometrial lining that is out of phase with the menstrual cycle, primarily due to an environment that is insufficient to support embryo implantation or early pregnancy. **1. Why Option A is Correct:** The fundamental pathology of LPD is **inadequate progesterone secretion** by the corpus luteum. Progesterone is essential for the "secretory transformation" of the endometrium. If progesterone levels are low or the duration of its secretion is short (less than 10 days), the endometrium fails to mature appropriately, leading to implantation failure or early spontaneous abortion. **2. Why the other options are incorrect:** * **Options B, C, and D:** Excess estrogen or progesterone do not define LPD. While an imbalance in the estrogen-to-progesterone ratio can affect the endometrium, LPD is specifically a state of **deficiency**, not excess. Excess progesterone would actually support the secretory phase, and excess estrogen (without progesterone) would lead to endometrial hyperplasia, not a luteal phase defect. **NEET-PG High-Yield Pearls:** * **Diagnostic Gold Standard:** Historically, a **timed endometrial biopsy** (showing a lag of >2 days by Noyes criteria) was the gold standard, though it is now less commonly used in routine practice. * **Clinical Presentation:** Often presents as infertility or recurrent pregnancy loss (RPL). * **Short Luteal Phase:** A luteal phase lasting **<10 days** (from ovulation to menses) is a classic indicator of LPD. * **Associated Conditions:** LPD is frequently seen in cases of hyperprolactinemia, thyroid dysfunction, and extreme exercise/stress, which disrupt the pulsatile release of GnRH and LH. * **Treatment:** Progesterone supplementation (vaginal or oral) during the luteal phase and treatment of the underlying cause (e.g., Bromocriptine for hyperprolactinemia).

Q: A 30-year-old athlete complains of amenorrhea for 1 year. Her BMI is 20 kg/m2. Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) are in the low normal range. Clinical and ultrasonography (USG) findings are normal. What is the most likely cause of her amenorrhea?

Excessive exercise. **Explanation:** The patient presents with **Functional Hypothalamic Amenorrhea (FHA)**, a condition characterized by the suppression of the Hypothalamic-Pituitary-Ovarian (HPO) axis due to energy deficits. **Why "Excessive Exercise" is correct:** In female athletes, intense physical activity combined with inadequate caloric intake leads to a decrease in **GnRH pulsatility** from the hypothalamus. This results in "low-normal" or low levels of LH and FSH (hypogonadotropic hypogonadism) and subsequent low estrogen. The patient’s history as an athlete and a BMI on the lower end of normal (20 kg/m²) strongly point toward exercise-induced FHA. **Why other options are incorrect:** * **Depression:** While psychological stress can cause FHA, the specific mention of the patient being an athlete makes exercise the more definitive clinical trigger. * **Premature Menopause (POI):** This would present with **elevated** gonadotropins (High FSH/LH) due to the loss of negative feedback from the ovaries, not low-normal levels. * **Anorexia Nervosa:** While this also causes FHA, it typically presents with a BMI <17.5 kg/m², severe body image distortion, and more profound metabolic disturbances than described here. **High-Yield Clinical Pearls for NEET-PG:** * **Female Athlete Triad:** Consists of (1) Low energy availability/Disordered eating, (2) Menstrual dysfunction (Amenorrhea), and (3) Low bone mineral density (Osteoporosis). * **Diagnosis of Exclusion:** FHA is diagnosed only after ruling out organic causes (e.g., pregnancy, prolactinoma, thyroid dysfunction). * **Progesterone Challenge Test:** Patients with FHA usually have a **negative** withdrawal bleed because of low endogenous estrogen levels (thin endometrium). * **Management:** The primary treatment is lifestyle modification (increasing caloric intake and reducing exercise intensity).

Q: Mifepristone is not used in which of the following conditions?

Threatened abortion. **Explanation:** **Mifepristone** is a potent **competitive progesterone receptor antagonist**. Since progesterone is the "hormone of pregnancy" essential for maintaining the decidua and uterine quiescence, blocking its receptors leads to decidual breakdown, cervical softening, and increased uterine contractility. 1. **Why Threatened Abortion is the correct answer:** In a threatened abortion, the goal of management is to **preserve the pregnancy**. Progesterone supplementation is often used to support the pregnancy. Administering Mifepristone (an anti-progesterone) would actively promote the detachment of the embryo and induce uterine contractions, leading to an inevitable or complete abortion. Therefore, it is strictly contraindicated. 2. **Analysis of other options:** * **Fibroid:** Mifepristone is used to reduce the size of leiomyomas by inhibiting progesterone-dependent growth of the fibroid tissue. * **Ectopic Pregnancy:** While Methotrexate is the primary medical management, Mifepristone is sometimes used as an adjunct to increase the success rate of tubal resolution by sensitizing the tissue. * **Molar Pregnancy:** Mifepristone can be used as a pre-evacuation cervical priming agent to facilitate suction and evacuation. **High-Yield Clinical Pearls for NEET-PG:** * **Medical Abortion Protocol:** 200 mg Mifepristone (oral) followed 36–48 hours later by 800 mcg Misoprostol (vaginal/oral/buccal) is effective up to 9 weeks (63 days) of gestation. * **Cushing’s Syndrome:** Mifepristone is also FDA-approved for controlling hyperglycemia in patients with endogenous Cushing’s syndrome (due to its glucocorticoid receptor antagonistic effect at high doses). * **Emergency Contraception:** A single dose of 10 mg Mifepristone is highly effective if taken within 120 hours of unprotected intercourse.

Q: Which of the following is FALSE regarding Polycystic Ovary Syndrome (PCOS)?

High FSH/LH ratio. **Explanation:** In Polycystic Ovary Syndrome (PCOS), the characteristic hormonal imbalance is a **Reversed FSH/LH ratio**, typically >2:1 or 3:1. Therefore, Option A is false because PCOS is characterized by **High LH** and **Low/Normal FSH**. The increased pulse frequency of GnRH favors LH production over FSH. Low FSH levels result in poor follicular recruitment and a lack of aromatase activity, leading to an accumulation of androgens. **Analysis of other options:** * **Bilateral ovarian cysts:** According to the **Rotterdam Criteria**, one of the diagnostic features is the presence of polycystic ovaries on ultrasound (≥12 follicles measuring 2–9 mm or ovarian volume >10 mL). This is typically a bilateral finding. * **Hirsutism:** This is a clinical manifestation of hyperandrogenism, another pillar of the Rotterdam Criteria. It is often assessed using the **Modified Ferriman-Gallwey score**. * **Increased risk of diabetes mellitus:** PCOS is strongly associated with **peripheral insulin resistance** and compensatory hyperinsulinemia. This significantly increases the long-term risk of Type 2 Diabetes and Metabolic Syndrome. **High-Yield Clinical Pearls for NEET-PG:** * **Rotterdam Criteria (2 out of 3):** 1. Oligo/Anovulation, 2. Hyperandrogenism (Clinical/Biochemical), 3. Polycystic ovaries on USG. * **Gold Standard Investigation:** Transvaginal Ultrasound (TVS). * **DOC for Ovulation Induction:** Letrozole (Aromatase inhibitor) is now preferred over Clomiphene Citrate. * **Long-term risks:** Endometrial hyperplasia/carcinoma (due to unopposed estrogen), Dyslipidemia, and OSA.

Question 1

Which of the following findings is suggestive that ovulation has taken place?

Accepted Answer

Sudden reduction in size of follicle and free fluid in Pouch of Douglas on USG

Answer

Pseudostratification in endometrium

Answer

Presence of Spinnbarkeit Phenomenon in cervical mucous

Answer

Trilamilar endometrium on USG

Question 2

What is the first step in the management of hirsutism due to Stein-Leventhal syndrome?

Accepted Answer

Oral contraceptive pills (OCPs)

Answer

Human Menopausal Gonadotropin (HMG)

Answer

Spironolactone

Answer

Bromocriptine

Question 3

Testicular feminization syndrome is associated with which of the following?

Accepted Answer

Primary amenorrhea

Answer

46,XX karyotype

Answer

Presence of a vagina

Answer

Short stature

Question 4

The Modified Ferriman Gallway score is used to grade which of the following conditions?

Accepted Answer

Hirsutism

Answer

Abnormal Uterine bleeding

Answer

Polycystic Ovarian Disease (PCOD)

Answer

Gestational Trophoblastic Neoplasia

Question 5

What is the treatment for a hirsute patient with Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Ethinyl estradiol + Desogestrel

Answer

Ethinyl estradiol + Levonorgestrel

Answer

Levonorgestrel

Answer

None of the above

Question 6

What is the cause for luteal phase defect?

Accepted Answer

Progesterone is inadequately secreted

Answer

Excess estrogen is secreted

Answer

Excess progesterone is secreted

Answer

Both estrogen and progesterone are in excess

Question 7

A 30-year-old athlete complains of amenorrhea for 1 year. Her BMI is 20 kg/m2. Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) are in the low normal range. Clinical and ultrasonography (USG) findings are normal. What is the most likely cause of her amenorrhea?

Accepted Answer

Excessive exercise

Answer

Depression

Answer

Premature menopause

Answer

Anorexia nervosa

Question 8

Mifepristone is not used in which of the following conditions?

Accepted Answer

Threatened abortion

Answer

Fibroid

Answer

Ectopic pregnancy

Answer

Molar pregnancy

Question 9

What is the most common cause of primary amenorrhea with ambiguous genitalia in a 46XX individual?

Accepted Answer

21-hydroxylase deficiency

Answer

17-hydroxylase deficiency

Answer

11-hydroxylase deficiency

Answer

Desmolase hydrolase deficiency

Question 10

Which of the following is FALSE regarding Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

High FSH/LH ratio

Answer

Bilateral ovarian cysts

Answer

Hirsutism

Answer

Increased risk of diabetes mellitus

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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