Reproductive Endocrinology Practice Questions

Q: In a girl with sexual infantilism and defective smell sensation, which of the following is the likely diagnosis transmitted by the sex chromosome?

Kallman's syndrome. ### Explanation **Kallmann’s Syndrome** is the correct diagnosis based on the classic clinical dyad of **hypogonadotropic hypogonadism** (leading to sexual infantilism/delayed puberty) and **anosmia or hyposmia** (defective smell). 1. **Why it is correct:** The condition results from the failure of GnRH-secreting neurons and olfactory neurons to migrate from the olfactory placode to the hypothalamus. While it can be autosomal dominant or recessive, the most classic form (KAL1 gene mutation) is **X-linked recessive**, satisfying the "transmitted by sex chromosome" criteria in the question. 2. **Why the others are incorrect:** * **Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome:** Characterized by Müllerian agenesis (absent uterus/upper vagina). These patients have normal ovaries, normal secondary sexual characteristics (not infantilism), and a normal sense of smell. * **Androgen Insensitivity Syndrome (AIS):** These are genotypic males (46,XY) with a female phenotype. They have breast development (due to peripheral aromatization) but absent pubic hair. They do not have anosmia. * **McCune-Albright Syndrome:** Presents with a triad of **precocious puberty** (not infantilism), café-au-lait spots, and polyostotic fibrous dysplasia. ### NEET-PG High-Yield Pearls * **Gold Standard Diagnosis:** MRI of the brain (shows absent or hypoplastic olfactory bulbs). * **Hormonal Profile:** Low GnRH → Low FSH/LH → Low Estrogen (Hypogonadotropic Hypogonadism). * **Associated Features:** Color blindness, cleft lip/palate, and renal agenesis (especially in the X-linked form). * **Treatment:** Pulsatile GnRH therapy is used to induce ovulation/fertility; HRT is used for the development of secondary sexual characteristics.

Q: An 18-year-old female presents with primary amenorrhea. Her height is normal but she has no secondary sexual characteristics. What is the most likely diagnosis?

Kallmann syndrome. ### Explanation **Correct Answer: C. Kallmann Syndrome** The clinical presentation of **primary amenorrhea** with **absent secondary sexual characteristics** and **normal height** points toward **Hypogonadotropic Hypogonadism**. In Kallmann syndrome, there is a failure of GnRH-secreting neurons to migrate from the olfactory placode to the hypothalamus. This results in low GnRH, low FSH/LH, and consequently, low estrogen levels. Because estrogen is required for breast development and the pubertal growth spurt, these patients lack secondary sexual characteristics. However, unlike Turner syndrome, their linear growth continues (often resulting in a normal or eunuchoid tall stature) because the epiphyses do not fuse early due to estrogen deficiency. **Why other options are incorrect:** * **Turner Syndrome (45,XO):** While it presents with primary amenorrhea and absent secondary sexual characteristics (Hypergonadotropic Hypogonadism), the hallmark feature is **short stature** and associated stigmata (webbed neck, shield chest). * **Swyer Syndrome (46,XY Pure Gonadal Dysgenesis):** These patients have streak gonads and present with primary amenorrhea and female phenotype. While they are usually **tall**, it is a less common cause than Kallmann in general presentations unless "XY genotype" is specified. * **Klinefelter Syndrome (47,XXY):** This affects **males**. It presents with small testes, infertility, and gynecomastia, not primary amenorrhea. **NEET-PG High-Yield Pearls:** * **Pathognomonic sign:** Anosmia or hyposmia (due to olfactory bulb hypoplasia). * **Genetics:** Most common inheritance is X-linked recessive (KAL-1 gene). * **Diagnostic Clue:** Low FSH/LH + Low Estrogen + Normal/Tall height + Anosmia = Kallmann Syndrome. * **Management:** Pulsatile GnRH therapy or gonadotropins are used to induce puberty and fertility.

Q: In Testicular Feminization syndrome, gonadectomy is indicated:

At puberty. **Explanation:** **Testicular Feminization Syndrome (Androgen Insensitivity Syndrome - AIS)** is an X-linked recessive condition where a 46,XY individual has a functional loss of androgen receptors. This results in a female phenotype with undescended testes. **Why Option B is Correct:** In AIS, the undescended testes produce high levels of testosterone, which is peripherally converted to estrogen via aromatization. This endogenous estrogen is crucial for achieving **spontaneous secondary sexual characteristics** (breast development and female body habitus) and a natural pubertal growth spurt. Therefore, gonadectomy is delayed until **after puberty** (usually ages 16–18) to allow for natural feminization without the need for exogenous hormone replacement during the teenage years. **Why Other Options are Incorrect:** * **Option A:** Performing surgery as soon as diagnosed (pre-puberty) would necessitate lifelong estrogen replacement therapy to induce puberty and prevent osteoporosis. * **Option C:** While the risk of malignancy (Gonadoblastoma/Dysgerminoma) is the primary reason for gonadectomy, waiting until it develops is dangerous. The risk is low (<2%) before puberty but increases significantly (up to 25-30%) in adulthood. * **Option D:** Hirsutism does not occur in AIS because the androgen receptors are non-functional; these patients typically have absent or scanty pubic and axillary hair. **High-Yield Clinical Pearls for NEET-PG:** * **Karyotype:** 46, XY (Genetically male, Phenotypically female). * **Clinical Features:** Primary amenorrhea, blind-ending vagina, absent uterus/ovaries (due to Anti-Müllerian Hormone action), and scant pubic hair. * **Malignancy Risk:** The risk of germ cell tumors is low before age 20, justifying the delay in surgery. * **Post-Op Care:** After gonadectomy, patients require **Estrogen replacement** to prevent menopausal symptoms and maintain bone mineral density.

Q: Ferning of cervical mucus disappears after which day of the menstrual cycle?

21st. **Explanation:** The appearance and disappearance of cervical mucus ferning are governed by the hormonal interplay between **Estrogen** and **Progesterone**. 1. **The Mechanism (Why 21st is correct):** Ferning (arborization) is caused by the crystallization of sodium chloride in cervical mucus under the influence of high estrogen levels. This process peaks at ovulation (Day 14). Post-ovulation, the corpus luteum produces **Progesterone**, which alters the chemical composition of the mucus, making it thick, cellular, and low in sodium chloride. This "anti-estrogenic" effect of progesterone inhibits crystallization. Ferning typically begins to diminish immediately after ovulation and **completely disappears by Day 21** of a standard 28-day cycle. 2. **Analysis of Incorrect Options:** * **7th Day:** This is the early follicular phase. Estrogen levels are just beginning to rise; ferning is usually absent or minimal at this stage. * **15th Day:** This is the immediate post-ovulatory period. While progesterone is rising, residual ferning may still be visible. * **18th Day:** Progesterone levels are significant, but the complete transition of mucus characteristics often takes a few more days to reach the point of total disappearance. **High-Yield Clinical Pearls for NEET-PG:** * **Spinnbarkeit Test:** Refers to the "stretchability" of cervical mucus. It is maximum (10–12 cm) just before ovulation due to high estrogen. * **Palm Leaf Pattern:** Another name for the ferning pattern seen under a microscope. * **Clinical Use:** The disappearance of ferning is a simple, indirect indicator that ovulation has occurred (progesterone effect). If ferning persists throughout the cycle, it suggests **anovulation** (persistent estrogen without progesterone).

Q: For the evaluation of gonadotropin levels, select the most appropriate day of a normal 28-day menstrual cycle for a woman with 5-day menstrual periods.

Day 3. **Explanation:** The evaluation of gonadotropins (FSH and LH) is a cornerstone in assessing ovarian reserve and the hypothalamic-pituitary-ovarian (HPO) axis. **Why Day 3 is Correct:** The goal of testing gonadotropins is to measure **"Basal Levels."** On Day 2 or 3 of the menstrual cycle (early follicular phase), estrogen and progesterone are at their lowest points. This lack of negative feedback allows the pituitary to secrete FSH at its baseline level. A Day 3 FSH level is the most reliable predictor of ovarian reserve; elevated levels (>10–12 mIU/mL) suggest diminished ovarian reserve (DOR). **Analysis of Incorrect Options:** * **Day 8 (Mid-follicular phase):** Dominant follicle selection has begun. Rising estradiol levels start to suppress FSH via negative feedback, making the reading inaccurate for baseline assessment. * **Day 14 (Ovulatory phase):** This coincides with the **LH surge** and a smaller FSH surge. While useful for documenting ovulation, it does not reflect basal endocrine status or ovarian reserve. * **Day 21 (Mid-luteal phase):** This is the ideal time to measure **Serum Progesterone** (to confirm ovulation) but is inappropriate for gonadotropins due to high progesterone levels suppressing FSH/LH. **NEET-PG High-Yield Pearls:** * **Day 2/3 FSH:** Best for Ovarian Reserve. * **Day 21 Progesterone:** Best to confirm Ovulation (>3 ng/mL indicates ovulation). * **AMH (Anti-Müllerian Hormone):** Unlike FSH, AMH can be tested on **any day** of the cycle as it is cycle-independent and is currently considered the most sensitive marker for ovarian reserve. * **LH:FSH Ratio:** Normally 1:1; a ratio >2:1 or 3:1 is a classic (though not diagnostic) finding in **PCOS**.

Q: Characteristic features of Rokitansky-Kuster-Hauser syndrome include all of the following except:

Anovulation. **Explanation:** Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital anomaly characterized by **Müllerian agenesis**. The core defect is the failure of the Müllerian ducts to develop, which normally give rise to the fallopian tubes, uterus, and the upper two-thirds of the vagina. **Why Anovulation is the correct answer:** In MRKH syndrome, the defect is strictly anatomical (Müllerian). The **ovaries develop from the primitive germ cells** (not the Müllerian ducts), meaning ovarian function remains entirely intact. Patients have normal follicular development, regular ovulation, and normal female levels of estrogen and progesterone. Therefore, "Anovulation" is the incorrect feature. **Analysis of other options:** * **Absent uterus & Absent vagina:** These are hallmark features. Due to Müllerian duct aplasia, the uterus and the upper 2/3rd of the vagina are absent or rudimentary. * **46, XX karyotype:** Patients are genetically female with a normal female karyotype. This distinguishes MRKH from Androgen Insensitivity Syndrome (AIS), which presents with a 46, XY karyotype. **High-Yield Clinical Pearls for NEET-PG:** * **Presentation:** Primary amenorrhea in a girl with normal secondary sexual characters (as ovaries are functional). * **Associated Anomalies:** Renal anomalies (e.g., renal agenesis, ectopic kidney) are seen in 40% of cases; skeletal anomalies (e.g., Klippel-Feil syndrome) are also common. * **Diagnosis:** MRI is the gold standard for visualizing pelvic anatomy; Ultrasound is the initial screening tool. * **Treatment:** Non-surgical (Frank’s dilators) or surgical (McIndoe vaginoplasty) creation of a neovagina. Pregnancy is possible only via surrogacy (as they have no uterus but produce viable oocytes).

Q: What is the microscopic finding of cervical mucus during the post-ovulatory period?

Shows ferning pattern on drying. **Explanation:** The correct answer is **A. Shows ferning pattern on drying**. **Underlying Medical Concept:** Cervical mucus characteristics are governed by the hormonal balance of the menstrual cycle. During the **pre-ovulatory (follicular) phase**, rising levels of **Estrogen** cause the cervical mucus to become thin, watery, alkaline, and rich in sodium chloride. When this mucus is spread on a glass slide and allowed to air-dry, the high salt concentration crystallizes in a characteristic palm-leaf or **"ferning" pattern**. This reaches its peak just before ovulation, facilitating sperm penetration. **Analysis of Options:** * **Option B (Is thick):** This is incorrect for the pre-ovulatory phase. Thick, tenacious, and viscous mucus is a feature of the **post-ovulatory (luteal) phase**, driven by **Progesterone**, which acts as a barrier to sperm. * **Option C (Is thin and cellular):** While the mucus is thin, it is notably **acellular** (or contains very few cells) during the pre-ovulatory period. High cellularity is a feature of the progesterone-dominant phase. * **Option D (Is thin and alkaline):** While pre-ovulatory mucus is indeed thin and alkaline, the question specifically asks for the **microscopic finding**. Ferning is the definitive microscopic hallmark, whereas alkalinity is a chemical property. **NEET-PG High-Yield Pearls:** 1. **Spinnbarkeit Test:** Refers to the "stretchability" of cervical mucus. In the pre-ovulatory phase, it can be stretched 8–10 cm. 2. **Progesterone Effect:** Progesterone inhibits ferning. The disappearance of ferning after mid-cycle is a presumptive sign that ovulation has occurred. 3. **Acellularity:** Pre-ovulatory mucus is clear and acellular; the presence of many leukocytes usually indicates cervicitis or the luteal phase.

Q: A young woman presents with delayed menstrual cycles and abnormal growth of facial hair. Ultrasonography of the ovaries is normal. What is the most probable diagnosis?

Polycystic Ovarian Disease (PCOD). **Explanation:** The diagnosis of **Polycystic Ovarian Disease (PCOD/PCOS)** is primarily clinical and biochemical. According to the **Revised Rotterdam Criteria**, a diagnosis requires at least two of the following three features: 1. **Oligomenorrhea/Anovulation** (Delayed menstrual cycles). 2. **Hyperandrogenism** (Clinical, e.g., hirsutism, or biochemical). 3. **Polycystic Ovaries on Ultrasound** (≥12 follicles or increased volume). In this case, the patient satisfies the first two criteria (delayed cycles and facial hair). Crucially, **normal ultrasonography does not exclude PCOD**, as up to 20–30% of women with PCOS may have normal-appearing ovaries on imaging. **Analysis of Incorrect Options:** * **Idiopathic Hirsutism:** Characterized by hirsutism with **regular** menstrual cycles and normal androgen levels. The presence of delayed cycles here points toward an ovulatory disorder like PCOD. * **Testosterone-secreting tumor:** These typically present with **virilization** (clitoromegaly, deepening of voice) and a very rapid onset of symptoms, rather than simple delayed cycles. * **Adrenal Hyperplasia (NCCAH):** While it mimics PCOD, it is less common. PCOD remains the most probable diagnosis for the combination of oligomenorrhea and hirsutism in a young woman. **NEET-PG High-Yield Pearls:** * **Gold Standard Diagnosis:** Rotterdam Criteria (2 out of 3). * **LH:FSH Ratio:** Classically 3:1 (though no longer a formal diagnostic criterion). * **Best Initial Test:** Serum free testosterone (elevated). * **USG Hallmark:** "String of pearls" appearance (subcapsular follicles). * **Treatment of choice for Hirsutism in PCOD:** Combined Oral Contraceptive Pills (OCPs).

Question 1

In a girl with sexual infantilism and defective smell sensation, which of the following is the likely diagnosis transmitted by the sex chromosome?

Accepted Answer

Kallman's syndrome

Answer

Rokitansky-Kuster-Hauser syndrome

Answer

Androgen insensitivity syndrome

Answer

McCune-Albright syndrome

Question 2

A 20-year-old female presents for an infertility workup. She has never had a menstrual period. She is short with a broad chest, webbed neck, and low-set ears. It is demonstrated that she has an abnormal karyotype. What is the cause of the woman's abnormal karyotype?

Accepted Answer

Either maternal or paternal nondisjunction

Answer

Maternal nondisjunction

Answer

Paternal nondisjunction

Answer

Both maternal and paternal nondisjunction

Question 3

An 18-year-old female presents with primary amenorrhea. Her height is normal but she has no secondary sexual characteristics. What is the most likely diagnosis?

Accepted Answer

Kallmann syndrome

Answer

Turner syndrome

Answer

Swyer syndrome

Answer

Klinefelter syndrome

Question 4

In Testicular Feminization syndrome, gonadectomy is indicated:

Accepted Answer

At puberty

Answer

As soon as it is diagnosed

Answer

Only when malignancy develops in it

Answer

When hirsutism is evident

Question 5

Ferning of cervical mucus disappears after which day of the menstrual cycle?

Accepted Answer

21st

Answer

7th

Answer

15th

Answer

18th

Question 6

In the presence of secondary sexual characters, at what age is screening for primary amenorrhea typically performed?

Accepted Answer

16 years

Answer

12 years

Answer

14 years

Answer

18 years

Question 7

For the evaluation of gonadotropin levels, select the most appropriate day of a normal 28-day menstrual cycle for a woman with 5-day menstrual periods.

Accepted Answer

Day 3

Answer

Day 8

Answer

Day 14

Answer

Day 21

Question 8

Characteristic features of Rokitansky-Kuster-Hauser syndrome include all of the following except:

Accepted Answer

Anovulation

Answer

Absent uterus

Answer

Absent vagina

Answer

46, XX karyotype

Question 9

What is the microscopic finding of cervical mucus during the post-ovulatory period?

Accepted Answer

Shows ferning pattern on drying

Answer

Is thick

Answer

Is thin and cellular

Answer

Is thin and alkaline

Question 10

A young woman presents with delayed menstrual cycles and abnormal growth of facial hair. Ultrasonography of the ovaries is normal. What is the most probable diagnosis?

Accepted Answer

Polycystic Ovarian Disease (PCOD)

Answer

Idiopathic hirsutism

Answer

Testosterone-secreting tumor

Answer

Adrenal hyperplasia

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

On this page

Practice by Chapter

Want unlimited practice?