Reproductive Endocrinology Practice Questions

Q: A woman with secondary amenorrhea has a negative progesterone challenge test but a positive combined estrogen and progesterone challenge test. What is the probable cause?

Ovarian failure. This question tests the systematic approach to secondary amenorrhea using hormonal challenge tests. ### **Mechanism & Interpretation** 1. **Negative Progesterone Challenge Test:** This indicates that the withdrawal of progesterone did not result in bleeding. This happens because either the **endometrium was not primed with estrogen** (low estrogen states) or there is an **outflow tract obstruction**. 2. **Positive Combined Estrogen-Progesterone Test:** The administration of exogenous estrogen followed by progesterone resulted in withdrawal bleeding. This confirms that the **outflow tract (uterus and cervix) is patent** and the endometrium is functional. **Conclusion:** Since the uterus is functional but didn't bleed with progesterone alone, the patient lacks endogenous estrogen. In the context of the options provided, **Ovarian Failure** (Premature Ovarian Insufficiency) is the cause of this hypoestrogenic state. ### **Why Other Options are Incorrect** * **Polycystic Ovarian Disease (PCOS):** Characterized by "unopposed estrogen." These patients have a **positive** progesterone challenge test because their endometrium is already primed. * **Asherman Syndrome:** This involves intrauterine adhesions. Patients will have a **negative** combined estrogen-progesterone test because the outflow tract is obstructed or the endometrium is destroyed. * **Pregnancy:** The most common cause of secondary amenorrhea, but it would result in a negative result for both tests (no bleeding). ### **NEET-PG High-Yield Pearls** * **Next Step:** After a positive combined test confirms a functional uterus, the next step is to check **Serum FSH levels** to differentiate between Hypogonadotropic Hypogonadism (Low FSH) and Ovarian Failure (High FSH). * **Step-1 (Progesterone Test):** Uses Medroxyprogesterone acetate (10mg for 5–10 days). * **Step-2 (Combined Test):** Uses Conjugated Estrogen (1.25mg for 21 days) + Progesterone (last 10 days).

Q: What is true about Swyer syndrome?

Mullerian ducts develop normally. **Explanation:** **Swyer Syndrome (Pure Gonadal Dysgenesis)** is a condition characterized by a **46,XY karyotype** in a phenotypic female. It occurs due to a mutation in the **SRY gene** or other genes involved in testis determination (like SOX9). 1. **Why Option B is correct:** In a normal male fetus, the testes produce **Anti-Müllerian Hormone (AMH)**, which causes the regression of Müllerian structures. In Swyer syndrome, the gonads fail to develop into testes and remain as non-functional **"streak gonads."** Because no testes are formed, no AMH is produced. In the absence of AMH, the Müllerian ducts (uterus, fallopian tubes, and upper vagina) develop normally. 2. **Why other options are incorrect:** * **Option A:** The gonads are not ovaries; they are fibrous **streak gonads** that lack germ cells. * **Option C:** Since there are no functioning testes, there is no testosterone or Dihydrotestosterone (DHT). Without androgens, the default pathway is female; thus, external genitalia appear **completely female**. * **Option D:** There is a **deficiency of testosterone**, not an excess, leading to a lack of secondary sexual characteristics (delayed puberty). **High-Yield Clinical Pearls for NEET-PG:** * **Presentation:** Primary amenorrhea with tall stature (due to delayed epiphyseal closure) and normal female internal/external genitalia. * **Malignancy Risk:** There is a high risk (approx. 30%) of developing **Gonadoblastoma** in the streak gonads. * **Management:** Immediate **prophylactic bilateral gonadectomy** upon diagnosis, followed by Hormone Replacement Therapy (HRT) for secondary sexual characteristics and bone health. * **Fertility:** Patients can achieve pregnancy through **oocyte donation** because they have a functional uterus.

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.

Question 1

Which of the following conditions is associated with polycystic ovaries?

Accepted Answer

Adrenal hyperplasia

Answer

Pheochromocytoma

Answer

Pancreatic overactivity

Answer

Thyroid hypofunction

Question 2

A woman with secondary amenorrhea has a negative progesterone challenge test but a positive combined estrogen and progesterone challenge test. What is the probable cause?

Accepted Answer

Ovarian failure

Answer

Polycystic ovarian disease

Answer

Asherman syndrome

Answer

Pregnancy

Question 3

A 35-year-old mother of two children is suffering from amenorrhea for the last 12 months. She has a history of failure of lactation following her second delivery but remained asymptomatic thereafter. Skull X-ray shows an empty sella. What is the diagnosis?

Accepted Answer

Sheehan's syndrome

Answer

Menopause

Answer

Pituitary tumor

Answer

Intraductal papilloma of the breast

Question 4

What is true about Swyer syndrome?

Accepted Answer

Mullerian ducts develop normally

Answer

Gonads are ovaries

Answer

External genitalia appear male

Answer

Excess testosterone

Question 5

Which of the following biochemical changes is NOT seen in established cases of Stein-Leventhal syndrome?

Accepted Answer

Elevation in the level of sex hormone binding globulin (SHBG)

Answer

Marked elevation of LH in contrast to FSH

Answer

Insulin resistance

Answer

Elevation of plasma testosterone

Question 6

You are treating a 27-year-old infertile patient with bromocriptine. What is the likely underlying diagnosis?

Accepted Answer

Hyperprolactinemia

Answer

Hyperpituitarism

Answer

Hypopituitarism

Answer

Polycystic ovarian disease (PCOD)

Question 7

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 8

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 9

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 10

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

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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