Reproductive Endocrinology Practice Questions

Q: A female patient presents with secondary amenorrhea and a serum prolactin level of 75 ng/ml. What is the most appropriate treatment?

Cabergoline. ### Explanation **Correct Answer: A. Cabergoline** The patient presents with **secondary amenorrhea** and **hyperprolactinemia** (Prolactin >25 ng/ml). Elevated prolactin levels inhibit the pulsatile release of GnRH from the hypothalamus, leading to decreased FSH and LH, which results in anovulation and amenorrhea. **Cabergoline** is a long-acting **Dopamine Agonist** with a high affinity for D2 receptors. Since dopamine is the primary physiological inhibitor of prolactin secretion, dopamine agonists are the first-line treatment for hyperprolactinemia (both idiopathic and prolactinomas). Cabergoline is preferred over Bromocriptine due to its superior efficacy and better side-effect profile (less nausea/dizziness). **Why Incorrect Options are Wrong:** * **B. Ganirelix:** This is a GnRH antagonist used primarily in IVF cycles to prevent premature LH surges. It would further suppress the reproductive axis. * **C. Clomiphene:** A Selective Estrogen Receptor Modulator (SERM) used for ovulation induction. While it treats infertility, it does not address the underlying cause (hyperprolactinemia) and is usually ineffective until prolactin levels are normalized. * **D. Estradiol:** This is used for hormone replacement therapy (HRT). While it may induce withdrawal bleeding, it does not treat the hyperprolactinemia and can potentially stimulate prolactin-secreting cells. **High-Yield NEET-PG Pearls:** * **Normal Prolactin:** 100 ng/ml, an MRI of the sella turcica is mandatory to rule out a prolactinoma.

Q: A 20-year-old young girl presents with a history of rapidly developing hirsutism and amenorrhea with a change in voice. Which of the following blood tests would you perform to establish a diagnosis?

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**. **1. Why Testosterone is the correct answer:** In cases of rapid-onset virilization, the primary goal is to rule out a tumor of the ovary or adrenal gland. **Serum Testosterone** is the most important initial marker. A level **>200 ng/dL** is highly suggestive of an ovarian androgen-secreting tumor (e.g., Sertoli-Leydig cell tumor). While DHEAS is used to screen for adrenal tumors, Testosterone is the more common and sensitive marker for the potent androgens causing frank virilization like voice changes. **2. Why other options are incorrect:** * **17-OH Progesterone:** This is the screening test for **Congenital Adrenal Hyperplasia (CAH)**. While CAH causes hirsutism, it is usually present from childhood/puberty and rarely presents with such a sudden, rapid onset of virilization in a 20-year-old. * **DHEA/DHEAS:** DHEAS is a marker for **adrenal** sources of androgens. While it would be measured if an adrenal tumor (like Adrenal Carcinoma) was suspected (levels >7000–8000 µg/dL), Testosterone remains the broader initial step to identify significant hyperandrogenism. * **LH + FSH estimation:** These are used to diagnose PCOS (LH:FSH ratio >2:1) or Premature Ovarian Failure. PCOS causes *gradual* hirsutism and rarely causes voice changes or clitoromegaly. **Clinical Pearls for NEET-PG:** * **Gradual onset + Obesity + Irregular periods:** Think **PCOS** (Most common cause of hirsutism). * **Rapid onset + Virilization (Voice change/Clitoromegaly):** Think **Androgen-secreting tumor**. * **Testosterone >200 ng/dL:** Suspect Ovarian Tumor (Sertoli-Leydig). * **DHEAS >7000 µg/dL:** Suspect Adrenal Tumor. * **Ferriman-Gallwey Score:** Used to clinically quantify hirsutism (Score ≥8 is significant).

Q: Normal ovaries are seen in which of the following conditions?

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. ### Explanation **Correct Option: A. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome** **Why it is correct:** MRKH syndrome (Müllerian Agenesis) is characterized by the congenital absence of the uterus and the upper two-thirds of the vagina. Crucially, the **ovaries originate from the primitive germ cells** (yolk sac) and not from the Müllerian ducts. Therefore, in MRKH, ovarian development and function are completely **normal**. Patients present with primary amenorrhea but have normal secondary sexual characteristics (due to intact estrogen production) and a female karyotype (46, XX). **Why other options are incorrect:** * **B. Turner Syndrome (45, XO):** This is a form of hypergonadotropic hypogonadism where accelerated oocyte atresia leads to **"streak ovaries"** (fibrous tissue without follicles). * **C. Swyer Syndrome (46, XY Pure Gonadal Dysgenesis):** Due to a failure in the SRY gene or its pathway, the undifferentiated gonads do not develop into testes. Instead, they remain as non-functional **streak gonads**. * **D. Gonadal Dysgenesis:** This is a broad term for any condition where the gonads fail to develop normally (including Turner and Swyer syndromes), typically resulting in streak gonads rather than functional ovaries. **NEET-PG High-Yield Pearls:** * **MRKH vs. AIS:** In MRKH, the karyotype is **46, XX** and testosterone levels are normal female. In Androgen Insensitivity Syndrome (AIS), the karyotype is **46, XY** and testosterone levels are in the male range. * **Associated Anomalies:** 30–40% of MRKH patients have **renal anomalies** (e.g., renal agenesis, ectopic kidney), so a renal ultrasound is mandatory. * **Hormonal Profile:** In MRKH, FSH, LH, and Estrogen levels are **normal** because the hypothalamic-pituitary-ovarian axis is intact.

Q: In galactorrhea-amenorrhea syndrome, what investigation should be advised apart from serum prolactin levels?

TSH. In **Galactorrhea-Amenorrhea Syndrome**, the primary pathology is hyperprolactinemia. While measuring serum prolactin is the first step, checking **TSH** levels is the most critical next investigation. ### Why TSH is the Correct Answer There is a strong physiological link between the thyroid and prolactin. In **Primary Hypothyroidism**, low levels of circulating thyroxine (T4) lead to a compensatory increase in **Thyrotropin-Releasing Hormone (TRH)** from the hypothalamus. * TRH acts as a potent stimulator for both the thyrotrophs (releasing TSH) and the **lactotrophs** in the anterior pituitary. * This results in secondary hyperprolactinemia, leading to galactorrhea and the suppression of GnRH, which causes amenorrhea. * Treating the underlying hypothyroidism with Levothyroxine usually resolves the galactorrhea and restores menses. ### Why Other Options are Incorrect * **LH (B):** While LH may be low or pulsatility may be altered in hyperprolactinemia, it is not a diagnostic tool for the cause of galactorrhea. * **Urinary Ketosteroids (C):** These are markers for adrenal androgens (e.g., in Congenital Adrenal Hyperplasia or adrenal tumors). They are irrelevant to the prolactin axis. * **HCG (D):** While pregnancy is the most common cause of secondary amenorrhea, it typically does not present with galactorrhea (due to high progesterone levels inhibiting milk let-down during pregnancy). ### NEET-PG High-Yield Pearls * **First-line drug** for prolactinoma: **Cabergoline** (Dopamine agonist). * **Most common cause** of pathological hyperprolactinemia: Pituitary Adenoma (Prolactinoma). * **Drug-induced galactorrhea:** Commonly caused by Metoclopramide, Antipsychotics (Risperidone), and Methyldopa (due to dopamine antagonism). * **Visual Field Defect:** Bitemporal hemianopia (due to optic chiasm compression by a macroadenoma).

Q: Menarche usually occurs how much time after thelarche?

2 years. **Explanation:** The sequence of female pubertal development follows a predictable chronological order, typically initiated by the activation of the HPO (Hypothalamic-Pituitary-Ovarian) axis. **1. Why Option B is Correct:** Thelarche (breast bud development) is usually the first clinical sign of puberty, occurring under the influence of rising estrogen levels (typically around age 10). **Menarche** (the onset of menstruation) is a late event in the pubertal sequence. On average, menarche occurs **2 to 2.5 years after thelarche**. By this time, the estrogen levels have sufficiently stimulated the endometrial lining to undergo shedding. **2. Why Other Options are Incorrect:** * **Option A (1 year):** This is too early. While the interval can vary, the physiological maturation required for the first menses generally takes longer than 12 months. * **Option C (6 months):** This is incorrect as the peak height velocity (PHV) usually occurs between thelarche and menarche, requiring more time for the hormonal milieu to stabilize. * **Option D (4 years):** If menarche has not occurred within 3 years of thelarche (or by age 15), it is clinically defined as primary amenorrhea and warrants investigation. **3. NEET-PG High-Yield Pearls:** * **Sequence of Puberty (Mnemonic: T-P-A-M):** 1. **T**helarche (Breast development - earliest sign) 2. **P**ubarche (Pubic hair development) 3. **A**daxarche/Growth Spurt (Peak Height Velocity) 4. **M**enarche (Last major event) * **Precocious Puberty:** Development of secondary sexual characteristics before age 8. * **Delayed Puberty:** No thelarche by age 13 or no menarche by age 15. * **Growth Spurt:** In girls, the peak height velocity occurs *before* menarche (Tanner Stage 2-3). Once menarche occurs, only about 2.5–5 cm of additional height is gained.

Q: Which of the following is true of testicular feminization syndrome?

Uterus is present. **Explanation:** **Testicular Feminization Syndrome**, now more commonly known as **Complete Androgen Insensitivity Syndrome (CAIS)**, is a condition where a genetic male (46, XY) has a total resistance to androgen action due to a mutation in the androgen receptor gene. **Why the "Correct" Answer is actually the "Incorrect" statement (Understanding the Question Logic):** In NEET-PG and similar exams, questions often ask for the "True" statement, but based on the options provided, this specific question is likely asking which of the following is **NOT** true (a common source of confusion in older question banks). * **The Fact:** In CAIS, the **uterus is absent**. * **The Mechanism:** The testes are present (intra-abdominal or inguinal) and secrete **Anti-Müllerian Hormone (AMH)**. AMH causes the regression of Müllerian structures (uterus, fallopian tubes, and upper 1/3rd of the vagina). Therefore, a patient with CAIS will have a blind-ending vaginal pouch and no uterus. **Analysis of Other Options:** * **A. Testes are present:** True. Testes develop because the SRY gene on the Y chromosome is functional. * **B. Female habitus:** True. Due to androgen resistance, the body follows the default female pathway. Peripheral conversion of testosterone to estrogen leads to breast development (often excellent) and female body contours. * **C. XY genotype:** True. These individuals are genetically male (46, XY). **High-Yield Clinical Pearls for NEET-PG:** 1. **Presentation:** Primary amenorrhea in a girl with well-developed breasts but **absent/scanty axillary and pubic hair** (due to androgen insensitivity). 2. **Karyotype:** 46, XY. 3. **Gonads:** Risk of malignancy (Gonadoblastoma/Dysgerminoma) is 2-5%; gonadectomy is recommended **after puberty** to allow for natural breast development. 4. **Differential Diagnosis:** In **Müllerian Agenesis (MRKH Syndrome)**, the karyotype is 46, XX, and pubic/axillary hair is normal.

Question 1

A female patient presents with secondary amenorrhea and a serum prolactin level of 75 ng/ml. What is the most appropriate treatment?

Accepted Answer

Cabergoline

Answer

Ganirelix

Answer

Clomiphene

Answer

Estradiol

Question 2

A 20-year-old young girl presents with a history of rapidly developing hirsutism and amenorrhea with a change in voice. Which of the following blood tests would you perform to establish a diagnosis?

Accepted Answer

Testosterone

Answer

17-OH progesterone

Answer

DHEA

Answer

LH + FSH estimation

Question 3

What is the common cause of labial fusion in an adult female?

Accepted Answer

Congenital adrenal hyperplasia

Answer

Fetal exogenous androgen exposure

Answer

Abdominal wall defects

Answer

All of the above

Question 4

Which of the following hormones is known to play a role in the development of ovarian hyperstimulation syndrome?

Accepted Answer

HCG

Answer

Luteinizing hormone

Answer

FSH

Answer

Progesterone

Question 5

In testicular feminisation syndrome, which of the following is true?

Accepted Answer

Normal breast size is observed

Answer

Buccal smear is chromatin positive

Answer

Menstruation is scanty and infrequent

Answer

Streak gonads are seen

Question 6

A lady presented with hirsutism, anovulation, and increased estrogen levels. Which of the following diagnostic investigations helps in diagnosis?

Accepted Answer

FSH/LH ratio

Answer

Prolactin level

Answer

LH, T

Answer

Testosterone, epiandrostenedione

Question 7

Normal ovaries are seen in which of the following conditions?

Accepted Answer

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Answer

Turner syndrome

Answer

Sawyer syndrome

Answer

Gonadal dysgenesis

Question 8

In galactorrhea-amenorrhea syndrome, what investigation should be advised apart from serum prolactin levels?

Accepted Answer

TSH

Answer

LH

Answer

Urinary ketosteroids

Answer

HCG

Question 9

Menarche usually occurs how much time after thelarche?

Accepted Answer

2 years

Answer

1 year

Answer

6 months

Answer

4 years

Question 10

Which of the following is true of testicular feminization syndrome?

Accepted Answer

Uterus is present

Answer

Testes are present

Answer

Female habitus

Answer

XY genotype

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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