Reproductive Endocrinology Practice Questions

Q: A 24-year-old patient has been diagnosed with androgen-insensitivity syndrome. The patient is likely to have all of the following signs EXCEPT?

Menstruation. **Explanation:** Androgen Insensitivity Syndrome (AIS), formerly known as Testicular Feminization Syndrome, is an X-linked recessive condition where there is a mutation in the androgen receptor. This leads to a complete or partial resistance to the action of testosterone. **Why "Menstruation" is the correct answer:** In AIS, the karyotype is **46, XY**. The testes are present (usually intra-abdominal) and secrete **Anti-Müllerian Hormone (AMH)**. AMH causes the regression of Müllerian structures, meaning the patient has **no uterus, fallopian tubes, or upper third of the vagina**. Without a uterus and endometrium, menstruation is physiologically impossible. This is a classic cause of primary amenorrhea. **Analysis of Incorrect Options:** * **A. An XY chromosome complement:** This is a feature of AIS. Patients are genetically male but phenotypically female due to the inability of tissues to respond to androgens. * **C. Female external genitalia:** Since the body cannot respond to Dihydrotestosterone (DHT), the external genitalia default to the female phenotype. The vagina is typically short and blind-ending (pouch). * **D. Heterosexuality:** In medical board exams, sexual orientation is generally defined by the gender of rearing. Since these patients are raised as females and have a female gender identity, being attracted to males is classified as heterosexuality. **NEET-PG High-Yield Pearls:** * **Phenotype:** Tall stature, well-developed breasts (due to peripheral conversion of testosterone to estrogen), but **absent/scant axillary and pubic hair** (the "hairless woman"). * **Diagnosis:** High Testosterone levels, high LH, and 46, XY karyotype. * **Management:** Gonadectomy is performed **after puberty** (to allow natural breast development) to prevent gonadoblastoma/dysgerminoma. * **Differential:** Distinguish from Müllerian Agenesis (MRKH), where the karyotype is 46, XX and testosterone levels are normal.

Q: Which hormone is typically elevated in polycystic ovarian syndrome?

Luteinizing hormone (LH). **Explanation:** In Polycystic Ovarian Syndrome (PCOS), the primary endocrine hallmark is a disruption of the hypothalamic-pituitary-ovarian axis. There is an increase in the **frequency and amplitude of GnRH pulses**, which preferentially stimulates the anterior pituitary to secrete **Luteinizing Hormone (LH)** over Follicle-stimulating hormone (FSH). This results in a characteristically **elevated LH:FSH ratio** (typically >2:1 or 3:1). High LH levels stimulate the ovarian theca cells to produce excessive androgens (androstenedione and testosterone), leading to hyperandrogenism and follicular arrest. **Analysis of Incorrect Options:** * **A. 17-alpha-hydroxyprogesterone:** This is a marker for **Congenital Adrenal Hyperplasia (CAH)**, specifically 21-hydroxylase deficiency. While it may be slightly elevated in PCOS, a significant rise is diagnostic of CAH, which is a key differential diagnosis to rule out before confirming PCOS. * **B. Follicle-stimulating hormone (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, contributing to the "string of pearls" appearance of immature follicles on ultrasound. * **D. Thyroid-stimulating hormone (TSH):** While hypothyroidism can cause menstrual irregularities, TSH is not typically elevated as a feature of PCOS itself. It is measured during workups only to exclude thyroid dysfunction as a cause of oligomenorrhea. **NEET-PG High-Yield Pearls:** * **Rotterdam Criteria (2 of 3):** 1. Hyperandrogenism (clinical/biochemical), 2. Ovulatory dysfunction (oligo/anovulation), 3. Polycystic ovaries on USG. * **Gold Standard Treatment for Ovulation Induction:** Letrozole (Aromatase inhibitor). * **Metabolic Association:** Hyperinsulinemia and insulin resistance are central to the pathogenesis, often leading to Acanthosis Nigricans.

Q: Which hormone is responsible for a positive "Fern test"?

Estrogen. The **Fern test** (arborization) is a classic clinical test used to evaluate cervical mucus characteristics under the influence of ovarian hormones. ### Why Estrogen is Correct Under the influence of high **Estrogen** levels (typically during the follicular phase, peaking just before ovulation), the cervical mucus becomes thin, watery, and alkaline. Most importantly, there is a significant increase in the concentration of **sodium chloride (NaCl)**. When this mucus is spread on a glass slide and allowed to air-dry, the high salt content crystallizes with glycoproteins to form a characteristic **"fern-like" pattern** visible under a light microscope. ### Why Other Options are Incorrect * **Progesterone:** This hormone is dominant during the luteal phase. It makes the cervical mucus thick, cellular, and scant. Progesterone **inhibits** ferning (causing a "disappearing fern" effect). If a woman is pregnant or in the secretory phase, the presence of progesterone will result in a negative fern test. * **FSH & LH:** While these gonadotropins regulate the production of estrogen and progesterone from the ovaries, they do not have a direct biochemical effect on the crystallization properties of cervical mucus. ### NEET-PG High-Yield Pearls * **Spinnbarkeit Test:** Also occurs under **Estrogen** influence; it refers to the "stretchability" of cervical mucus (usually >6–10 cm at ovulation). * **Clinical Use:** The Fern test is used to detect ovulation or to confirm the **Premature Rupture of Membranes (PROM)**, as amniotic fluid also shows a positive fern pattern. * **Cellularity:** Estrogenic mucus has low cellularity, whereas Progestogenic mucus has high cellularity (leukocytes).

Q: Which of the following is a false statement regarding testicular feminisation syndrome?

Buccal smear is chromatin positive. **Explanation:** **Testicular Feminization Syndrome (now commonly known as Complete Androgen Insensitivity Syndrome - CAIS)** is a condition where a genetic male (46, XY) has a total resistance to androgens due to a defect in the androgen receptor. **1. Why Option A is the Correct (False) Statement:** The **buccal smear** detects the presence of a **Barr body**, which represents an inactivated X chromosome. Since patients with CAIS have a **46, XY** karyotype, they possess only one X chromosome. Therefore, no Barr body is formed, making the buccal smear **chromatin negative**. A chromatin-positive smear is characteristic of individuals with at least two X chromosomes (e.g., normal females or Klinefelter syndrome). **2. Analysis of Other Options:** * **Option B (Normal breast size):** True. High levels of testosterone are converted to estrogen via peripheral aromatization. Since androgen action is blocked, this estrogen acts unopposed, leading to excellent breast development (often described as "voluptuous"). * **Option C (Amenorrhea):** True. Patients have **primary amenorrhea**. Because they have testes that produce Anti-Müllerian Hormone (AMH), the Müllerian structures (uterus, fallopian tubes, and upper vagina) fail to develop. * **Option D (Familial incidence):** True. The condition is inherited as an **X-linked recessive** trait, often affecting multiple "sisters" in a family. **High-Yield Clinical Pearls for NEET-PG:** * **Phenotype:** Phenotypically female but genetically male (46, XY). * **Gonads:** Undescended testes (may present as inguinal hernia in a "girl"). * **Hair:** Scanty to absent pubic and axillary hair (due to androgen resistance). * **Vagina:** Blind-ending pouch (short vagina). * **Management:** Gonadectomy is performed **after puberty** (to allow natural breast development) to prevent gonadoblastoma/dysgerminoma.

Q: Ovarian Hyperstimulation syndrome can be seen in patients treated with which of the following therapies?

All the above. **Explanation:** Ovarian Hyperstimulation Syndrome (OHSS) is an iatrogenic complication of ovulation induction characterized by an exaggerated response to hormonal stimulation. The pathophysiology involves the overproduction of **Vascular Endothelial Growth Factor (VEGF)**, leading to increased capillary permeability, fluid shift from the intravascular to the extravascular space (third-spacing), and subsequent ascites or pleural effusion. **Why "All the Above" is Correct:** Any medication that stimulates the recruitment and maturation of multiple follicles can trigger OHSS. * **FSH/LH therapy (Gonadotropins):** This is the **most common** cause. Direct stimulation of the ovaries often leads to high serum estradiol levels and multiple follicles, significantly increasing the risk. * **Clomiphene Citrate:** While the risk is much lower (approx. 1%) compared to gonadotropins, it can still cause mild to moderate OHSS by increasing endogenous FSH production. * **GnRH therapy:** Pulsatile GnRH therapy used for hypothalamic amenorrhea stimulates the pituitary to release FSH/LH, which can occasionally lead to hyperstimulation. **High-Yield Clinical Pearls for NEET-PG:** * **Trigger Factor:** OHSS is typically triggered by the administration of **hCG** (used for final oocyte maturation) because of its long half-life and cross-reactivity with LH receptors. * **Risk Factors:** Young age (<30 years), low BMI, **Polycystic Ovarian Syndrome (PCOS)**, and high Anti-Müllerian Hormone (AMH) levels. * **Classification:** It ranges from Mild (abdominal bloating) to Critical (thromboembolism, ARDS, and renal failure). * **Management:** The primary strategy is "Prevention." If OHSS is suspected, the hCG trigger is withheld ("coasting"), or a GnRH agonist trigger is used instead. Treatment is largely supportive with fluid management (Albumin) and thromboprophylaxis.

Q: A nineteen-year-old female with short stature, widely spaced nipples, and primary amenorrhea most likely has which karyotype?

45, X. ### Explanation The clinical triad of **short stature**, **widely spaced nipples** (shield chest), and **primary amenorrhea** in a young female is a classic presentation of **Turner Syndrome**. **1. Why 45, X is correct:** Turner Syndrome is characterized by the complete or partial absence of one X chromosome. The loss of the second X chromosome leads to accelerated oocyte atresia, resulting in **streak ovaries** (gonadal dysgenesis). This causes hypergonadotropic hypogonadism, leading to primary amenorrhea and a lack of secondary sexual characteristics. The short stature is attributed to the loss of the **SHOX gene**, which is located on the distal end of the X chromosome. **2. Why the other options are incorrect:** * **47, XX, +18 (Edwards Syndrome):** This is a trisomy characterized by severe intellectual disability, micrognathia, low-set ears, and clenched fists with overlapping fingers. Most patients do not survive past infancy. * **46, XXY / 47, XXY (Klinefelter Syndrome):** These karyotypes represent Klinefelter syndrome, which occurs in **males**. It presents with tall stature, gynecomastia, small firm testes, and infertility. It does not present with primary amenorrhea or short stature. **3. NEET-PG High-Yield Clinical Pearls:** * **Most common cause of primary amenorrhea:** Turner Syndrome. * **Cardiac Associations:** Bicuspid aortic valve (most common) and Coarctation of the aorta. * **Renal Association:** Horseshoe kidney. * **Hormonal Profile:** Elevated FSH and LH (due to lack of negative feedback from estrogen). * **Dermatological sign:** Webbed neck (Cystic hygroma/lymphatic obstruction in utero). * **Mosaicism:** 45,X/46,XX is the most common mosaic pattern; these patients may have some secondary sexual development or even secondary amenorrhea.

Q: This syndrome is an example of

Testicular dysgenesis. ***Testicular dysgenesis*** - **Klinefelter syndrome (47,XXY)** represents testicular dysgenesis due to abnormal development and function of the testes from birth. - Characterized by **hypogonadism**, **infertility**, and **gynecomastia** resulting from defective testicular hormone production and spermatogenesis. *Male pseudohermaphroditism* - Refers to individuals with **46,XY karyotype** but abnormal male sexual development due to defects in **androgen synthesis** or **receptor function**. - Klinefelter syndrome has **47,XXY karyotype** with normal androgen receptors, not defective masculinization pathways. *Female pseudohermaphroditism* - Occurs in individuals with **46,XX karyotype** who develop **masculinized external genitalia** due to excess **androgen exposure**. - Klinefelter syndrome involves **male karyotype components** with primary testicular failure, not female chromosomal constitution. *True hermaphroditism* - Extremely rare condition where individuals possess both **ovarian and testicular tissue** simultaneously. - Klinefelter syndrome has only **testicular tissue** (though dysfunctional), without any ovarian components present.

Q: Which of the following is NOT a feature of Turner's syndrome?

Normal secondary sexual characters. **Explanation:** Turner’s Syndrome is the most common cause of primary amenorrhea due to **gonadal dysgenesis**. The fundamental pathology is the absence of one X chromosome (or part of it), leading to accelerated oocyte atresia and the formation of **streak ovaries**. **Why Option C is the Correct Answer:** In Turner’s Syndrome, the ovaries fail to produce estrogen. Estrogen is essential for the development of **secondary sexual characteristics** (breast development, female fat distribution). Consequently, these patients present with **sexual infantilism** (Tanner Stage 1). Therefore, "Normal secondary sexual characters" is the incorrect feature. **Analysis of Other Options:** * **A. Karyotype 46, X0:** This is the classic genetic finding (monosomy X), though mosaics (e.g., 45,X/46,XX) also occur. Note: The option likely meant 45,X0; however, in the context of "Not a feature," Option C is the most definitive clinical mismatch. * **B. Underdeveloped uterus:** Due to the lack of estrogen stimulation from the ovaries, the uterus remains **pre-pubertal/hypoplastic** in size. * **D. Primary amenorrhea:** Since there is no follicular development or estrogen/progesterone cycling, the endometrial lining never builds up or sheds, leading to a failure to start menses. **High-Yield Clinical Pearls for NEET-PG:** * **Most common cardiac lesion:** Bicuspid aortic valve (most common overall); Coarctation of aorta (classic association). * **Renal anomaly:** Horseshoe kidney. * **Skeletal features:** Short stature, Shield chest (widely spaced nipples), Cubitus valgus, and Short 4th metacarpal. * **Hormonal Profile:** Hypergonadotropic hypogonadism (High FSH/LH, Low Estrogen). * **Management:** Growth Hormone (for height) followed by Estrogen (for secondary sexual characteristics) and Progesterone (to prevent endometrial hyperplasia).

Question 1

A 24-year-old patient has been diagnosed with androgen-insensitivity syndrome. The patient is likely to have all of the following signs EXCEPT?

Accepted Answer

Menstruation

Answer

An XY chromosome complement

Answer

Female external genitalia

Answer

Heterosexuality

Question 2

Which hormone is typically elevated in polycystic ovarian syndrome?

Accepted Answer

Luteinizing hormone (LH)

Answer

17-alpha-hydroxyprogesterone

Answer

Follicle-stimulating hormone (FSH)

Answer

Thyroid-stimulating hormone (TSH)

Question 3

Which of the following conditions does not present with both Mullerian and Wolffian duct structures?

Accepted Answer

FSH receptor mutation

Answer

Antimullerian hormone deficiency

Answer

Ovo-testicular syndrome

Answer

Mixed gonadal dysgenesis

Question 4

Which hormone is responsible for a positive "Fern test"?

Accepted Answer

Estrogen

Answer

Progesterone

Answer

FSH

Answer

LH

Question 5

Which of the following is a false statement regarding testicular feminisation syndrome?

Accepted Answer

Buccal smear is chromatin positive

Answer

Normal breast size

Answer

Amenorrhea

Answer

Familial incidence is recognized

Question 6

Ovarian Hyperstimulation syndrome can be seen in patients treated with which of the following therapies?

Accepted Answer

All the above

Answer

FSH/LH therapy

Answer

Clomiphene citrate

Answer

GnRH therapy

Question 7

Hypergonadotropic hypogonadism is due to which of the following conditions?

Accepted Answer

Hypothyroidism

Answer

Pure gonadal dysgenesis

Answer

Turner's syndrome

Answer

Premature ovarian failure

Question 8

A nineteen-year-old female with short stature, widely spaced nipples, and primary amenorrhea most likely has which karyotype?

Accepted Answer

45, X

Answer

47, XX, +18

Answer

46, XXY

Answer

47, XXY

Question 9

This syndrome is an example of

Accepted Answer

Testicular dysgenesis

Answer

Male pseudohermaphroditism

Answer

Female pseudohermaphroditism

Answer

True hermaphroditism

Question 10

Which of the following is NOT a feature of Turner's syndrome?

Accepted Answer

Normal secondary sexual characters

Answer

Karyotype is 46, X0

Answer

Underdeveloped uterus

Answer

Primary amenorrhea

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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