Reproductive Endocrinology Practice Questions

Q: Cells in vaginal cytology increase in reproductive age under the influence of which hormone?

Oestrogen. **Explanation:** The vaginal epithelium is a hormone-sensitive tissue that undergoes cyclical changes during the reproductive years. **1. Why Oestrogen is Correct:** Oestrogen is the primary hormone responsible for the **proliferation and maturation** of the vaginal squamous epithelium. Under its influence, the epithelium thickens, and cells accumulate glycogen. On a vaginal smear (cytology), oestrogen causes a shift toward **Superficial cells** (large, flat cells with pyknotic nuclei). This is quantified by the **Karyopyknotic Index (KPI)**; a high KPI indicates high oestrogenic activity. **2. Why Other Options are Incorrect:** * **Progesterone:** This hormone causes "maturation arrest" at the mid-level. Instead of superficial cells, it leads to an increase in **Intermediate cells**, often seen forming clusters or "clumping" (Navicular cells). It is dominant during the luteal phase and pregnancy. * **FSH & LH:** These are gonadotropins secreted by the anterior pituitary. While they regulate the ovaries to produce oestrogen and progesterone, they do not have a direct trophic effect on the vaginal squamous cells themselves. **3. High-Yield Clinical Pearls for NEET-PG:** * **Maturation Index (MI):** Reported as a ratio of Parabasal : Intermediate : Superficial cells. * **Childhood/Menopause:** Shift to the left (predominantly Parabasal cells due to low oestrogen). * **Pregnancy/Luteal Phase:** Shift to the middle (predominantly Intermediate cells). * **Ovulation:** Shift to the right (predominantly Superficial cells). * **Ferning Pattern:** Seen in cervical mucus under oestrogen influence (due to NaCl concentration); inhibited by progesterone. * **Döderlein’s Bacilli:** These bacteria metabolize the glycogen in oestrogen-primed vaginal cells into lactic acid, maintaining a protective acidic pH (3.8–4.5).

Q: What is the karyotype of Sweyer syndrome?

46XY. **Explanation:** **Swyer Syndrome (Pure Gonadal Dysgenesis)** is a condition characterized by a **46,XY karyotype** in an individual who presents with a female phenotype. The underlying pathology is a failure of the testicular development in utero, often due to a mutation in the **SRY gene** or other sex-determining genes (like SOX9). Because the testes do not develop, there is no production of Testosterone or Anti-Müllerian Hormone (AMH). Consequently, the Müllerian ducts persist (forming a uterus, fallopian tubes, and upper vagina), and the external genitalia develop as female. **Analysis of Options:** * **46,XY (Correct):** Despite the male genotype, the gonads are "streak gonads" and non-functional, leading to a female phenotype with primary amenorrhea. * **46,XX (Incorrect):** This is the normal female karyotype. While 46,XX Pure Gonadal Dysgenesis exists, Swyer Syndrome specifically refers to the 46,XY variety. * **45,XO (Incorrect):** This is the karyotype for **Turner Syndrome**, the most common cause of primary amenorrhea and streak gonads. Unlike Swyer syndrome, Turner patients are typically short in stature and have associated stigmata (webbed neck, shield chest). * **47,XXY (Incorrect):** This is **Klinefelter Syndrome**, which presents as a male phenotype with small testes, infertility, and gynecomastia. **High-Yield Clinical Pearls for NEET-PG:** * **Clinical Presentation:** Tall stature (unlike Turner’s), primary amenorrhea, and presence of a uterus. * **Gonads:** Streak gonads with a **high risk (approx. 30%) of germ cell tumors** (e.g., Gonadoblastoma, Dysgerminoma). * **Management:** Prophylactic **bilateral gonadectomy** is mandatory upon diagnosis due to malignancy risk, followed by Hormone Replacement Therapy (HRT). * **Biochemical Profile:** Hypergonadotropic hypogonadism (High FSH/LH, Low Estrogen).

Q: A female with a previous child diagnosed with congenital adrenal hyperplasia requires steroid therapy in the present pregnancy. When should this therapy be initiated?

As soon as pregnancy is diagnosed. **Explanation:** The primary goal of prenatal treatment in Congenital Adrenal Hyperplasia (CAH), specifically 21-hydroxylase deficiency, is to **prevent the virilization of a female fetus**. 1. **Why Option D is correct:** The development of external genitalia begins around the **6th to 7th week** of gestation. To effectively suppress the fetal pituitary-adrenal axis and prevent the overproduction of adrenal androgens, dexamethasone must be initiated **before** this critical window. Since the diagnosis of the fetal sex and genotype cannot be confirmed that early, treatment must start **as soon as pregnancy is confirmed** (usually by the 5th–6th week) to ensure the female fetus is protected from masculinization. 2. **Why other options are incorrect:** * **Option A:** Karyotyping (via CVS or amniocentesis) occurs after the 10th–15th week. By this time, if the fetus is female, virilization has already occurred, making the therapy ineffective for its primary purpose. * **Option B:** Treatment at delivery is useless for preventing birth defects; it only manages the neonate's immediate metabolic crisis. * **Option C:** While pre-conception counseling is vital, steroid therapy is not required until there is a developing fetus to protect. **Clinical Pearls for NEET-PG:** * **Drug of Choice:** **Dexamethasone** (20 mcg/kg/day) is used because it is not inactivated by the placental enzyme 11β-hydroxysteroid dehydrogenase type 2, allowing it to reach the fetus. * **Management Strategy:** Treatment is started blindly in all at-risk pregnancies. Once the sex is determined (via CVS/NIPT) and the fetus is found to be **male** or an **unaffected female**, dexamethasone is discontinued. * **Risk:** Only 1 in 8 at-risk fetuses (those who are both female and affected) actually benefit from the therapy.

Q: A 32-year-old woman has had three pregnancies, all ending in stillbirths in the first trimester. On physical examination, she and her only spouse for all pregnancies have no abnormalities. Which of the following laboratory tests is most appropriate to perform on this woman for elucidating potential causes for recurrent fetal loss?

Karyotyping. **Explanation:** The clinical presentation of three consecutive pregnancy losses (recurrent pregnancy loss, RPL) necessitates an investigation into parental genetic factors. **Why Karyotyping is Correct:** Approximately 2–5% of couples with recurrent pregnancy loss have a major structural chromosomal abnormality, most commonly a **balanced reciprocal or Robertsonian translocation**. While the parent is phenotypically normal (as seen in this case), their gametes can lead to unbalanced chromosomal arrangements in the fetus, resulting in miscarriage or stillbirth. Conventional **G-banded Karyotyping** is the gold standard initial test for both partners to identify these structural rearrangements. **Analysis of Incorrect Options:** * **A. Genome-wide association study (GWAS):** This is a research tool used to identify genetic variations (SNPs) associated with complex diseases across a population; it is not a diagnostic tool for individual clinical evaluation of RPL. * **B. Fluorescence in situ hybridization (FISH):** While FISH can detect specific microdeletions or aneuploidies, it is "targeted." It would miss the broad range of structural translocations that a global karyotype can detect. * **D. PCR analysis:** PCR is used to amplify specific DNA sequences (e.g., for single-gene disorders like Thalassemia). It cannot detect the large-scale structural chromosomal shifts responsible for most genetic causes of RPL. **Clinical Pearls for NEET-PG:** * **Definition of RPL:** Traditionally 3 or more consecutive losses; however, ASRM now defines it as **2 or more** clinical pregnancy losses. * **Most common genetic cause of RPL:** Parental balanced translocation. * **Most common cause of sporadic miscarriage:** Fetal chromosomal aneuploidy (Trisomy 16 is the most common specific trisomy). * **Other RPL investigations:** Uterine anatomy (HSG/Hysteroscopy), Antiphospholipid Syndrome (APLA) screening, and Thyroid profile.

Q: Gynecomastia is not associated with which of the following?

A person with (45, XO) karyotype. **Explanation:** The core pathophysiology of gynecomastia involves an **imbalance between free estrogen and free androgen** actions on breast tissue. **Why (45, XO) is the correct answer:** A person with a **(45, XO) karyotype has Turner Syndrome**. These individuals are phenotypically female but experience gonadal dysgenesis (streak ovaries), leading to primary hypogonadism. Because they lack functional testicular tissue and do not produce significant male levels of androgens or the subsequent peripheral conversion to estrogens, they do not develop gynecomastia. In fact, Turner syndrome is characterized by a lack of secondary sexual characteristics, including minimal breast development (thelarche). **Analysis of Incorrect Options:** * **Anabolic Steroids:** Exogenous testosterone or its analogs are often peripherally aromatized into estrogen. Additionally, they suppress the HPO axis, leading to decreased endogenous testosterone, thus tilting the ratio in favor of estrogen. * **Alcoholic Cirrhosis:** The liver is responsible for metabolizing estrogen and producing Sex Hormone Binding Globulin (SHBG). In cirrhosis, decreased estrogen clearance and increased SHBG (which binds testosterone more tightly than estrogen) lead to hyperestrogenism. * **Antiretroviral Therapy (ART):** Specifically, Protease Inhibitors (PIs) and Efavirenz are associated with lipodystrophy and true gynecomastia, likely due to metabolic disturbances or mitochondrial toxicity. **High-Yield Clinical Pearls for NEET-PG:** * **Klinefelter Syndrome (47, XXY):** This is the most common chromosomal cause of gynecomastia (increased risk of breast cancer). * **Drugs causing Gynecomastia (Mnemonic: DISCO):** **D**igoxin, **I**soniazid, **S**pironolactone (most common drug cause), **C**imetidine, **O**estrogens/Ketoconazole. * **Physiological Gynecomastia:** Occurs in three peaks—Neonatal, Pubertal, and Senile (old age).

Q: What is the typical maturation index during pregnancy?

0, 95, 5. **Explanation:** The **Maturation Index (MI)** is a cyto-hormonal evaluation of the vaginal epithelium. It represents the percentage of three types of cells: **Parabasal (P) : Intermediate (I) : Superficial (S)**. The maturation of these cells is directly influenced by hormonal levels: Estrogen promotes superficial cells, Progesterone promotes intermediate cells, and a lack of both leads to a predominance of parabasal cells. **Why Option D is Correct:** During pregnancy, there is a massive and sustained production of **Progesterone** (initially by the corpus luteum, then the placenta). Progesterone halts the maturation of vaginal cells at the **intermediate stage**. Therefore, a typical smear in pregnancy shows a "Progesterone effect," characterized by a heavy predominance of intermediate cells (often forming clusters called "navicular cells"). A typical MI in pregnancy is **0/95/5**, reflecting nearly all intermediate cells and very few superficial cells. **Analysis of Incorrect Options:** * **Option A (0/40/50):** This reflects a high estrogenic state (many superficial cells), typical of the **pre-ovulatory phase** of the menstrual cycle. * **Option B (50/40/0):** This shows a "shift to the left" with many parabasal cells, typical of **atrophic vaginitis** or the **postmenopausal** state. * **Option C (0/0/100):** This represents extreme estrogenic stimulation, sometimes seen in estrogen-secreting tumors or exogenous administration. **High-Yield NEET-PG Pearls:** 1. **Navicular Cells:** Boat-shaped intermediate cells filled with glycogen, highly characteristic of the pregnancy smear. 2. **Cytolytic Effect:** In late pregnancy, *Lactobacillus acidophilus* may cause lysis of these intermediate cells, releasing nuclei (naked nuclei). 3. **Shift to the Left:** Means more parabasal cells (Atrophy). 4. **Shift to the Right:** Means more superficial cells (Estrogen effect).

Q: A 16-year-old girl presents with rapid onset hirsutism and amenorrhea. What is the best investigation?

Testosterone estimation. **Explanation:** The clinical presentation of **rapid onset hirsutism** accompanied by **amenorrhea** in a young girl is a "red flag" that strongly suggests a virilizing tumor (either ovarian or adrenal) rather than a functional disorder like PCOS. **1. Why Testosterone estimation is the correct answer:** In cases of rapid-onset virilization, the primary goal is to rule out an androgen-secreting tumor. **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). Testosterone is the most potent androgen and its elevation directly correlates with the severity of virilization. **2. Why other options are incorrect:** * **DHEAS estimation:** While DHEAS is a marker for adrenal tumors (levels >700 µg/dL suggest adrenal carcinoma), Testosterone is generally considered the first-line screening investigation for overall virilization. * **ACTH estimation:** This is used to diagnose Cushing’s syndrome or Addison’s disease. While Cushing’s can cause hirsutism, it presents with other systemic features (moon face, striae) and is not the primary screen for rapid virilization. * **LH and FSH estimation:** These are used to diagnose PCOS (LH:FSH ratio >2:1) or Primary Ovarian Insufficiency. PCOS typically presents with *gradual* onset hirsutism, not the rapid progression described here. **Clinical Pearls for NEET-PG:** * **Gradual onset hirsutism + Obesity + LH:FSH >2:1** = PCOS. * **Rapid onset hirsutism + Virilization + Testosterone >200 ng/dL** = Ovarian Tumor. * **Rapid onset hirsutism + Virilization + DHEAS >700 µg/dL** = Adrenal Tumor. * **Ferriman-Gallwey Score:** Used to clinically quantify hirsutism (Score ≥8 is significant).

Q: Withdrawal bleeding with progesterone is seen in an otherwise amenorrheic woman due to which of the following conditions?

Anovulation. **Explanation:** The **Progesterone Challenge Test (PCT)** is a fundamental diagnostic tool in evaluating secondary amenorrhea. For withdrawal bleeding to occur after progesterone administration, two physiological prerequisites must be met: 1. **Adequate Endogenous Estrogen:** The ovaries must be producing enough estrogen to prime and proliferate the endometrium. 2. **Patent Outflow Tract:** The uterus and vagina must be anatomically intact. **Why Anovulation is the Correct Answer:** In **Anovulation** (e.g., PCOS), the ovaries produce estrogen, but because ovulation does not occur, no corpus luteum is formed, and no progesterone is produced. This leads to a state of "unopposed estrogen," causing a proliferative endometrium. When exogenous progesterone is given and then stopped, it mimics the natural decline of progesterone, causing the built-up endometrium to shed (withdrawal bleed). **Analysis of Incorrect Options:** * **Hypogonadotropic Hypogonadism (A):** There is a failure of the Pituitary/Hypothalamus. Low FSH/LH leads to low estrogen levels. Without estrogen priming, the endometrium remains atrophic, and no bleeding occurs. * **Ovarian Failure (C):** The ovaries are unresponsive or depleted of follicles. Despite high FSH, estrogen levels are negligible, leading to a negative PCT. * **Tuberculosis Endometritis (D):** This causes destruction of the endometrial lining or synechiae (Asherman-like syndrome). Even with adequate hormones, there is no functional tissue to shed. **NEET-PG High-Yield Pearls:** * **Positive PCT:** Confirms anovulation and adequate estrogen (e.g., PCOS). * **Negative PCT:** Indicates either **low estrogen** (Hypothalamic/Ovarian failure) or **endometrial/outflow tract issues**. * The next step after a negative PCT is the **Estrogen + Progesterone Challenge Test**. If bleeding occurs now, the defect is in the HPO axis; if no bleeding occurs, the defect is in the outflow tract (Asherman’s or MRKH).

Q: Which of the following is NOT a feature of pseudocyesis?

Fetal heart sounds are audible. **Explanation:** **Pseudocyesis** (False Pregnancy) is a rare psychosomatic disorder where a non-pregnant woman exhibits classic signs and symptoms of pregnancy. It is often rooted in an intense desire for, or a profound fear of, conception, leading to a disruption of the hypothalamic-pituitary-ovarian axis. **Why Option C is the correct answer:** In pseudocyesis, there is **no fetus present**. Therefore, objective signs of pregnancy—such as audible fetal heart sounds (FHS) on Doppler, fetal movements felt by a clinician, or visualization of a fetus on ultrasound—are always absent. The presence of fetal heart sounds would confirm a true pregnancy, making it the defining feature that is *not* part of pseudocyesis. **Analysis of Incorrect Options:** * **Option A (Amenorrhea):** This is a common feature. Stress and psychological factors can alter gonadotropin release, leading to secondary amenorrhea or oligomenorrhea, mimicking early pregnancy. * **Option B (Abdominal distension):** This is frequently observed and is usually caused by the accumulation of excess fat, gaseous distension of the bowel, or voluntary contraction of the abdominal muscles (lordosis). Interestingly, the distension often disappears under general anesthesia. **High-Yield Clinical Pearls for NEET-PG:** * **Hormonal Profile:** Patients may show elevated levels of prolactin or LH, but the **hCG (Human Chorionic Gonadotropin) test is always negative**. * **Associated Signs:** Patients may also report breast tenderness, galactorrhea (due to hyperprolactinemia), and "quickening" (subjective sensation of fetal movement caused by intestinal peristalsis). * **Diagnosis:** The gold standard to rule out pseudocyesis and confirm/deny pregnancy is a **Pelvic Ultrasound**. * **Management:** The primary treatment is psychological counseling and psychiatric referral, rather than hormonal therapy.

Question 1

Cells in vaginal cytology increase in reproductive age under the influence of which hormone?

Accepted Answer

Oestrogen

Answer

Progesterone

Answer

FSH

Answer

LH

Question 2

What is the karyotype of Sweyer syndrome?

Accepted Answer

46XY

Answer

46XX

Answer

45XO

Answer

47XXY

Question 3

A female with a previous child diagnosed with congenital adrenal hyperplasia requires steroid therapy in the present pregnancy. When should this therapy be initiated?

Accepted Answer

As soon as pregnancy is diagnosed

Answer

After karyotyping and determination of the baby's sex

Answer

At the time of delivery

Answer

Before conception

Question 4

A girl with normal stature and minimal or absent pubertal development is seen in which condition?

Accepted Answer

Kallmann syndrome

Answer

Turner syndrome

Answer

Testicular feminization syndrome

Answer

Pure gonadal dysgenesis

Question 5

A 32-year-old woman has had three pregnancies, all ending in stillbirths in the first trimester. On physical examination, she and her only spouse for all pregnancies have no abnormalities. Which of the following laboratory tests is most appropriate to perform on this woman for elucidating potential causes for recurrent fetal loss?

Accepted Answer

Karyotyping

Answer

Genome-wide association study

Answer

Fluorescence in situ hybridization

Answer

PCR analysis

Question 6

Gynecomastia is not associated with which of the following?

Accepted Answer

A person with (45, XO) karyotype

Answer

Use of Anabolic steroids

Answer

Alcoholic cirrhosis

Answer

Antiretroviral therapy

Question 7

What is the typical maturation index during pregnancy?

Accepted Answer

0, 95, 5

Answer

0, 40, 50

Answer

50, 40, 0

Answer

0, 0, 100

Question 8

A 16-year-old girl presents with rapid onset hirsutism and amenorrhea. What is the best investigation?

Accepted Answer

Testosterone estimation

Answer

Dihydroepiandrosterone estimation

Answer

Adrenocorticotropic hormone estimation

Answer

Luteinizing hormone and Follicle-stimulating hormone estimation

Question 9

Withdrawal bleeding with progesterone is seen in an otherwise amenorrheic woman due to which of the following conditions?

Accepted Answer

Anovulation

Answer

Hypogonadotropic hypogonadism

Answer

Ovarian failure

Answer

Tuberculosis endometritis

Question 10

Which of the following is NOT a feature of pseudocyesis?

Accepted Answer

Fetal heart sounds are audible

Answer

Amenorrhea

Answer

Abdominal distension

Answer

None of the above

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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