Reproductive Endocrinology Practice Questions

Q: The following hormonal changes mark the Polycystic Ovarian Disease except

Raised LH, Raised FSH. ***Raised LH, Raised FSH*** - In **Polycystic Ovarian Syndrome (PCOS)**, the characteristic LH/FSH ratio is typically **high LH and low-to-normal FSH**, not elevated levels of both. - A simultaneous elevation of both **LH and FSH** is more indicative of **primary ovarian failure** rather than PCOS, as the ovaries would no longer be producing sufficient hormones, leading to increased pituitary stimulation. *Raised LH, Low-to-normal FSH* - This hormonal pattern is a hallmark of **PCOS**, where the **increased LH** stimulates the ovarian theca cells to produce excess androgens. - The **low or normal FSH** prevents proper follicular development, contributing to anovulation and cyst formation. *Hyperinsulinaemia* - **Insulin resistance** and compensatory **hyperinsulinaemia** are very common findings in PCOS, driving increased ovarian androgen production. - High insulin levels potentiate the effect of LH on ovarian androgen synthesis and suppress hepatic production of sex hormone-binding globulin (SHBG). *Hyperandrogenism* - **Hyperandrogenism**, characterized by elevated levels of androgens (e.g., testosterone), is a central feature of PCOS and responsible for symptoms like hirsutism, acne, and alopecia. - This excess androgen production originates primarily from the ovaries and, to some extent, the adrenal glands, often exacerbated by hyperinsulinaemia.

Q: If a patient of polycystic ovary syndrome on metformin conceives, how soon should the metformin be stopped?

Immediately following the diagnosis of pregnancy. ***Immediately following the diagnosis of pregnancy*** - Based on **current evidence**, metformin can be safely **discontinued once pregnancy is confirmed** in PCOS patients. - The primary role of metformin in PCOS is to improve **ovulation and achieve conception**—once pregnancy occurs, this goal is accomplished. - Recent large randomized trials (including **PregMet** and **MiTy studies**) have shown **no significant benefit** in continuing metformin during pregnancy for reducing miscarriage or gestational diabetes. - Current practice favors **individualized decisions**, but routine continuation is not standard. *After the 1st trimester* - This was **older practice** based on theoretical benefits of reducing early pregnancy loss. - However, systematic reviews and meta-analyses have **not confirmed** these benefits in well-designed trials. - While some clinicians may continue metformin through the first trimester in selected cases, this is not the standard recommendation for all PCOS pregnancies. *After the 2nd trimester* - Continuing metformin this long is **not evidence-based** for routine PCOS management. - While metformin may be continued throughout pregnancy for **gestational diabetes** management (separate indication), this is not specifically for PCOS. - Most guidelines do not support routine continuation beyond pregnancy confirmation for PCOS alone. *Before the onset of labour* - This timing has **no physiological basis** for PCOS-related metformin use. - If metformin is being used for gestational diabetes (different indication), timing of discontinuation would be individualized, but this is not the standard answer for PCOS patients.

Q: A 16 year old girl presents with primary amenorrhea with absent vagina, cervix and uterus in the presence of normal secondary sexual characteristics. Ovaries are present on USG. The most probable diagnosis is:

Mayer Rockitansky Kuster Hauser syndrome. ***Mayer Rokitansky Küster Hauser syndrome*** - This syndrome is characterized by **agenesis or hypoplasia of the Müllerian ducts**, leading to the absence of the vagina, cervix, and uterus. - The presence of **normal secondary sexual characteristics** and **ovaries** confirms that ovarian function (estrogen production) is intact and the karyotype is typically 46, XX. *Klinefelter's syndrome* - This is a chromosomal disorder in males (47, XXY) characterized by **primary hypogonadism**, small testes, and often infertility. - It would present as a male, not a 16-year-old girl with an absent uterus. *Androgen Insensitivity syndrome* - In this syndrome, individuals are **genetically male (46, XY)** but appear female due to target tissue insensitivity to androgens. - They typically have a short, blind-ending vagina but **lack a uterus, fallopian tubes, and ovaries**, having undescended testes instead. *Prader-Willi syndrome* - This is a genetic disorder characterized by **intellectual disability**, obesity, short stature, and **hypogonadism**. - It does not involve agenesis of the female reproductive organs and is not primarily linked to primary amenorrhea with absent reproductive structures.

Q: A seven year old girl with precocious puberty is found to be having a 10 cm ovarian cyst on USG. The most likely etiology is

Granulosa cell tumour. ***Granulosa cell tumour*** - This tumor is a common cause of **sexual precocity** in girls because it produces **estrogen**, leading to premature development of secondary sexual characteristics. - Granulosa cell tumors can grow to a significant size, like the **10 cm ovarian cyst** described, and are often malignant or borderline. *Choriocarcinoma* - Ovarian choriocarcinoma is a **highly malignant germ cell tumor** that typically secretes **human chorionic gonadotropin (hCG)**, not estrogen. - While it can cause precocious pseudopuberty by stimulating ovarian steroidogenesis through hCG, it is a very rare primary ovarian tumor. *Benign cystic teratoma* - These are **common germ cell tumors** that contain tissues from all three germ layers; however, they are usually **hormonally inactive** and do not typically cause precocious puberty. - While they can form large cysts, the presence of precocious puberty points away from this diagnosis. *Brenner tumour* - **Brenner tumors** are uncommon epithelial ovarian tumors that are typically **solid and benign**, though malignant forms exist. - They are generally **hormonally inactive** and do not cause precocious puberty; they also typically occur in older women.

Q: A 30-year-old housewife reports with 6 months amenorrhea. Her serum LH and FSH are high with low estradiol levels. What is the most likely cause of amenorrhea in this context?

Premature menopause. ***Premature menopause*** - **High LH and FSH** with **low estradiol** levels indicate primary ovarian failure, where the ovaries are no longer responding to pituitary stimulation. - In a 30-year-old woman, this ovarian failure presenting as 6 months of amenorrhea is consistent with **premature menopause** (also known as premature ovarian insufficiency). *Polycystic ovarian disease* - Characterized by **high LH:FSH ratio** (typically LH higher than FSH) and **high estrogen** due to peripheral conversion of androgens, which is contrary to the low estradiol observed here. - Presents with features like **hirsutism**, acne, and menstrual irregularities, but typically not with primary ovarian failure. *Exercise induced* - **Exercise-induced amenorrhea** (hypothalamic amenorrhea) is characterized by **low or normal LH and FSH** and **low estradiol**, reflecting inadequate GnRH pulsatility from the hypothalamus, not primary ovarian failure. - This condition is a form of **secondary amenorrhea** due to a disruption in the hypothalamic-pituitary-ovarian axis, often seen in athletes or people with low body fat. *Pituitary tumour* - A **pituitary tumor** can cause amenorrhea by various mechanisms, such as secreting prolactin (prolactinoma) which **inhibits GnRH**, leading to **low LH, FSH, and estradiol**. - Alternatively, a large non-functional tumor might cause hypopituitarism, also resulting in **low gonadotropins and estradiol**, which contradicts the high LH and FSH seen in this patient.

Q: For a primary amenorrhea individual having an XY karyotype, normal infantile female external and internal genitalia, fibrous bands in place of gonads, and lack of development of secondary sexual characters, what is the most probable diagnosis?

Swyer syndrome. ***Swyer syndrome*** - **Swyer syndrome**, or **46,XY complete gonadal dysgenesis**, is characterized by an XY karyotype with female external and internal genitalia, but rudimentary gonads (streak gonads) that appear as fibrous bands. - The absence of functional testes leads to a lack of **androgen production** and **Müllerian inhibiting factor (MIF)**, resulting in a female phenotype, primary amenorrhea, and absent secondary sexual characteristics. *Testicular feminization syndrome* - In **Testicular feminization syndrome**, or **Androgen Insensitivity Syndrome (AIS)**, individuals have functional testes producing androgens but the target cells are unresponsive. - This leads to male internal gonads (testes) but female external genitalia and normal breast development, which contradicts the described "fibrous bands in place of gonad" and "lack of development of secondary sexual characters." *Mixed gonadal dysgenesis* - **Mixed gonadal dysgenesis** usually involves mosaicism (e.g., 45,X/46,XY), leading to an asymmetrical development of gonads, typically with a streak gonad on one side and a dysgenetic testis on the other. - This often results in ambiguous genitalia and a different hormonal profile than described. *Defective antimüllerian hormone* - A **defective antimüllerian hormone (AMH)** or its receptor would result in the persistence of Müllerian structures (uterus, fallopian tubes) in an individual with an XY karyotype and male external genitalia. - This condition does not explain the lack of secondary sexual characteristics or the presence of fibrous bands instead of testes.

Q: Abundant cornified cells in vaginal exfoliative cytology indicate:

Late proliferative phase. ***Late proliferative phase*** - During the **late proliferative phase**, estrogen levels are at their peak, leading to significant maturation and cornification of vaginal epithelial cells. - This phase is characterized by a high proportion of **superficial cells**, which are large, polygonal, and have small, pyknotic nuclei, reflecting extensive cornification. *Late secretory phase* - In the **late secretory phase**, progesterone levels are high, which causes an increase in **intermediate cells** and a decrease in superficial (cornified) cells. - The cytology would show a dominance of folded intermediate cells, often in clusters, and a **"navicular cell"** appearance, rather than abundant cornified cells. *Early secretory phase* - The **early secretory phase** is also dominated by progesterone's influence, leading to a shift from superficial to intermediate cells. - There would be a mixture of intermediate and some superficial cells, but not the abundance of **highly cornified cells** seen in the late proliferative phase. *Early proliferative phase* - The **early proliferative phase** follows menstruation and is characterized by rising estrogen, but not yet at its peak. - The cytology would typically show a mixture of **parabasal**, intermediate, and some superficial cells, reflecting the initial regeneration of the epithelium, with less cornification than the late proliferative phase.

Q: Diagnostic criteria for PCOS are: 1. Oligo/amenorrhea 2. Hyperandrogenism 3. Polycystic ovaries on ultrasound Which of the above are correct?

1, 2 and 3. ***1, 2 and 3*** - All three listed features are the **Rotterdam criteria** for diagnosing PCOS, which is the most widely used diagnostic system. - The Rotterdam criteria require **at least 2 out of 3** of the following: **(1) oligo-ovulation/anovulation** (clinically presenting as oligo/amenorrhea), **(2) clinical or biochemical hyperandrogenism**, and **(3) polycystic ovaries on ultrasound**. - Since all three listed features are valid diagnostic criteria, the correct answer includes all of them (1, 2, and 3). - Note: Diagnosis requires meeting 2 out of 3 criteria, but all 3 are recognized valid criteria. *2 and 3 only* - This option incorrectly excludes **oligo/amenorrhea** (oligo-ovulation/anovulation). - Oligo/amenorrhea is a core criterion in the Rotterdam criteria and represents the ovulatory dysfunction that is central to PCOS. - Excluding this criterion makes the option incomplete. *1 and 3 only* - This option incorrectly excludes **hyperandrogenism**. - Hyperandrogenism (clinical signs like hirsutism, acne, or biochemical elevation of androgens) is a fundamental criterion in the Rotterdam criteria. - It reflects the hormonal dysregulation that characterizes PCOS and cannot be excluded as a valid diagnostic criterion. *1 and 2 only* - This option incorrectly excludes **polycystic ovaries on ultrasound**. - The ultrasound finding of polycystic ovarian morphology (≥12 follicles measuring 2-9 mm or ovarian volume >10 mL) is an essential criterion in the Rotterdam criteria. - Excluding this morphological feature makes the option incomplete.

Question 1

The following hormonal changes mark the Polycystic Ovarian Disease except

Accepted Answer

Raised LH, Raised FSH

Answer

Raised LH, Low-to-normal FSH

Answer

Hyperinsulinaemia

Answer

Hyperandrogenism

Question 2

If a patient of polycystic ovary syndrome on metformin conceives, how soon should the metformin be stopped?

Accepted Answer

Immediately following the diagnosis of pregnancy

Answer

After the 1st trimester

Answer

After the 2nd trimester

Answer

Before the onset of labour

Question 3

A 16 year old girl presents with primary amenorrhea with absent vagina, cervix and uterus in the presence of normal secondary sexual characteristics. Ovaries are present on USG. The most probable diagnosis is:

Accepted Answer

Mayer Rockitansky Kuster Hauser syndrome

Answer

Klinefelter's syndrome

Answer

Androgen Insensitivity syndrome

Answer

Prader-Willi syndrome

Question 4

A seven year old girl with precocious puberty is found to be having a 10 cm ovarian cyst on USG. The most likely etiology is

Accepted Answer

Granulosa cell tumour

Answer

Choriocarcinoma

Answer

Benign cystic teratoma

Answer

Brenner tumour

Question 5

A 30-year-old housewife reports with 6 months amenorrhea. Her serum LH and FSH are high with low estradiol levels. What is the most likely cause of amenorrhea in this context?

Accepted Answer

Premature menopause

Answer

Polycystic ovarian disease

Answer

Exercise induced

Answer

Pituitary tumour

Question 6

For a primary amenorrhea individual having an XY karyotype, normal infantile female external and internal genitalia, fibrous bands in place of gonads, and lack of development of secondary sexual characters, what is the most probable diagnosis?

Accepted Answer

Swyer syndrome

Answer

Testicular feminization syndrome

Answer

Mixed gonadal dysgenesis

Answer

Defective antimüllerian hormone

Question 7

Abundant cornified cells in vaginal exfoliative cytology indicate:

Accepted Answer

Late proliferative phase

Answer

Late secretory phase

Answer

Early secretory phase

Answer

Early proliferative phase

Question 8

Diagnostic criteria for PCOS are:

1. Oligo/amenorrhea
2. Hyperandrogenism
3. Polycystic ovaries on ultrasound

Which of the above are correct?

Accepted Answer

1, 2 and 3

Answer

2 and 3 only

Answer

1 and 3 only

Answer

1 and 2 only

Question 9

A 15-year-old girl child with primary amenorrhea has pubic hair, prepubertal breast, blind vagina, clitoromegaly, and normal testosterone. Karyotype given is 46 XY , what is the cause?

Accepted Answer

5-alpha reductase deficiency

Answer

17 hydroxylase deficiency

Answer

Swyer syndrome

Answer

Complete AIS

Question 10

A teenage girl presented with irregular cycles and increased facial hair. Her ovaries showed increased volume. Which of the following are used in the first line treatment?

1. Laparoscopic ovarian drilling
2. Anti-androgens
3. Lifestyle modifications
4. Combined oral contraceptive pills

Accepted Answer

2,3,4

Answer

1,2,3

Answer

1,2,4

Answer

1,3,4

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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