Reproductive Endocrinology Practice Questions

Q: A 21-year-old woman presents with complaints of primary amenorrhea. Her height is 153 cm, and her weight is 51 kg. She has well-developed breasts. She has no pubic or axillary hair and no hirsutism. Which of the following is the most probable diagnosis?

Complete androgen insensitivity syndrome. ***Complete androgen insensitivity syndrome*** - This syndrome presents with **primary amenorrhea**, **well-developed breasts**, and **absent pubic/axillary hair** due to the inability of androgen receptors to respond to testosterone. - Patients are typically **genetically male** (XY) but phenotypically female, with undescended testes and a blind-ending vagina. *Turner's syndrome* - Characterized by **short stature**, a **webbed neck**, and **ovarian dysgenesis**, leading to absent breast development and amenorrhea. - Lacks the feature of well-developed breasts noted in the patient. *Stein-Leventhal syndrome* - Also known as **Polycystic Ovary Syndrome (PCOS)**, this typically presents with secondary amenorrhea or oligomenorrhea, **hirsutism**, acne, and obesity. - The patient's lack of hirsutism and primary amenorrhea make PCOS less likely. *Premature ovarian failure* - Involves the **cessation of ovarian function before age 40**, leading to primary or secondary amenorrhea. - Patients typically present with symptoms of **estrogen deficiency**, including poor breast development, which contradicts the well-developed breasts in this case.

Q: Which type of cancer is most commonly associated with polycystic ovarian syndrome (PCOS)?

Endometrial carcinoma. ***Endometrial carcinoma*** - PCOS is associated with **chronic anovulation**, leading to unopposed **estrogen exposure** which causes continuous endometrial proliferation and increased risk of **endometrial hyperplasia** and **carcinoma**. - The elevated **androgen levels** in PCOS can be aromatized to estrogens, further contributing to endometrial stimulation. *Ovarian carcinoma* - While PCOS involves the ovaries, it is not consistently linked to an increased risk of **ovarian cancer**. - Most ovarian cancers arise from **epithelial cells**, and the specific mechanisms related to PCOS do not directly promote their development. *Cervical carcinoma* - **Cervical cancer** is primarily caused by persistent infection with **high-risk human papillomavirus (HPV)**. - There is no strong direct association between PCOS and an increased risk of cervical carcinoma. *Adrenal carcinoma* - **Adrenal carcinoma** is a rare and aggressive cancer of the adrenal glands. - Although PCOS can involve some adrenal androgen excess, it is not considered a risk factor for adrenal cancer.

Q: Which of the following ovarian tumors is associated with precocious puberty in young girls?

Granulosa cell tumor. ***Granulosa cell tumor*** - These tumors are **sex cord-stromal tumors** that can produce **estrogen**, leading to signs of precocious puberty in young girls, such as breast development and vaginal bleeding. - The excess estrogen can stimulate the development of **secondary sexual characteristics** prematurely. *Immature teratoma* - Immature teratomas are **germ cell tumors** consisting of immature embryonic tissues; while they can occur in children, they are not typically hormonally active or associated with precocious puberty. - They are more commonly associated with symptoms related to their **mass effect** or rupture. *Dysgerminoma* - Dysgerminomas are also **germ cell tumors** but are generally **non-hormonal** and do not typically cause precocious puberty. - They tend to be large and are generally associated with elevated **lactate dehydrogenase (LDH)**. *Krukenberg tumor* - A Krukenberg tumor is a **metastatic signet ring cell adenocarcinoma** to the ovary, usually from a gastric primary. - These tumors are not primary ovarian tumors and do not typically produce hormones that cause precocious puberty.

Q: Which of the following does not cause female pseudohermaphroditism?

Theca cell tumor. ***Theca cell tumor*** - Theca cell tumors (thecomas) are typically **estrogen-producing tumors** and do not cause virilization or female pseudohermaphroditism. - They are more commonly associated with symptoms related to **estrogen excess**, such as abnormal uterine bleeding or endometrial hyperplasia. *Hilus cell tumor* - Hilus cell tumors are **androgen-producing tumors** of the ovary (containing Leydig cells) that secrete **testosterone and other androgens**, leading to virilization. - This can cause **female pseudohermaphroditism** (external virilization of a 46,XX individual) if occurring prenatally or post-natal virilization in adulthood. *Congenital adrenal hyperplasia* - **Congenital adrenal hyperplasia (CAH)**, particularly 21-hydroxylase deficiency, is the **most common cause** of female pseudohermaphroditism due to **excess adrenal androgen production** during fetal development. - Increased androgens lead to **virilization of external genitalia** in 46,XX fetuses. *Leydig cell tumor* - Ovarian Leydig cell tumors are extremely rare androgen-producing tumors. The more common androgen-producing ovarian tumor is the **Sertoli-Leydig cell tumor** (androblastoma). - **Sertoli-Leydig cell tumors** are sex cord-stromal tumors that produce **androgens**, causing **virilization** in affected individuals, which can lead to masculinization and ambiguous genitalia.

Q: In a clinical scenario where a patient does not experience withdrawal bleeding after the administration of estrogen followed by progestin, what does this indicate?

Uterine factor. ***Uterine factor*** - Withdrawal bleeding after estrogen-progestin administration indicates a responsive **endometrium** with adequate estrogen priming and ability to respond to progesterone. The absence of bleeding suggests an issue with the uterus itself, indicating a **uterine factor**. - A persistent lack of response to this hormonal challenge points towards a physical or anatomical problem within the uterus, such as **Asherman's syndrome** (intrauterine adhesions) or severe endometrial damage/absence. - This test helps differentiate between **outflow tract abnormalities** and hormonal causes of amenorrhea. *Ovarian factors* - Ovarian factors primarily affect **estrogen production** and would be addressed by the exogenous estrogen administration, meaning they wouldn't prevent withdrawal bleeding if the uterus is healthy. - In cases of ovarian dysfunction (e.g., polycystic ovary syndrome, premature ovarian insufficiency), withdrawal bleeding would typically occur after exogenous estrogen and progestin administration. *Pituitary factor* - Pituitary problems lead to insufficient **gonadotropin** (FSH/LH) production, impacting ovarian steroidogenesis, which is bypassed by direct estrogen-progestin administration. - If the pituitary is the cause of amenorrhea, exogenous estrogen-progestin would still elicit withdrawal bleeding provided the uterus is responsive. *Hypothalamic factor* - Hypothalamic issues result in inadequate **GnRH** pulsatility, affecting pituitary and subsequently ovarian function, but are circumvented by direct estrogen-progestin administration. - A healthy uterus would respond to the administered hormones by displaying withdrawal bleeding, regardless of hypothalamic dysfunction.

Q: What is the management for women with polycystic ovary syndrome (PCOS) and hirsutism?

Ethinyl estradiol + Cyproterone Acetate. ***Ethinyl estradiol + Cyproterone Acetate*** - This combination is effective for managing **hirsutism** in PCOS because ethinyl estradiol suppresses **gonadotropins** and ovarian androgen production, while **cyproterone acetate** is a potent **anti-androgen** that blocks androgen effects at the receptor level. - The anti-androgenic properties of cyproterone acetate directly address the excess androgen activity responsible for hirsutism. *Ethinyl estradiol* - While ethinyl estradiol (an estrogen) can suppress **gonadotropins** and thus reduce ovarian androgen production, it alone is not primarily effective in directly addressing and reversing existing hirsutism. - It would not sufficiently counteract the effects of high androgens on hair follicles without an additional anti-androgen. *Levonorgestrel* - Levonorgestrel is a **progestin** with **androgenic properties**, particularly at higher doses. - This would potentially worsen hirsutism rather than improve it, as it contributes to androgenic effects. *Ethinyl estradiol + Levonorgestrel* - This combination is a common component of oral contraceptive pills, but **levonorgestrel** has some **androgenic activity**, which means it could worsen or fail to improve hirsutism. - While ethinyl estradiol lowers androgens, the mild androgenic effect of levonorgestrel might counteract the desired anti-androgenic effect needed to treat hirsutism effectively.

Q: At what age is menstruation considered precocious in females?

Before 10 years of age. ***Before 10 years of age*** - Menstruation occurring **before the age of 10** is generally considered **precocious puberty**, warranting investigation. - While definitions can vary slightly, a threshold of **before 10 years** is a common diagnostic criterion for precocious menarche. *After 12 years of age* - Menarche **after 12 years** is within the normal range of pubertal development, with the average age being around 12.4 years in Western populations. - This age is considered **normal** or even slightly later than average, not precocious. *At 12 years of age* - **12 years of age** is well within the normal range for the onset of menstruation. - This age represents the **average or expected time** for menarche to occur. *At 11 years of age* - Menarche at **11 years of age** is considered to be within the normal, albeit earlier, end of the physiological spectrum. - This age does **not meet the criteria** for being precocious.

Q: A 27-year-old female was prescribed bromocriptine for treatment of infertility in the outpatient department. What could be the possible reason?

Hyperprolactinemia. ***Hyperprolactinemia*** - **Bromocriptine** is a **dopamine agonist** that suppresses prolactin secretion, making it a primary treatment for **hyperprolactinemia**. - Elevated prolactin levels can disrupt normal ovarian function, leading to **anovulation** and **infertility**. *Polycystic Ovary Syndrome (PCOS)* - While PCOS is a common cause of infertility, its primary treatment involves **lifestyle modifications**, **clomiphene citrate**, or **metformin**, not bromocriptine. - PCOS is characterized by **androgen excess**, **anovulation**, and **polycystic ovaries**, which are not directly addressed by bromocriptine. *Hypogonadotropic Hypogonadism* - This condition involves low levels of **gonadotropins** (LH, FSH) from the pituitary, requiring treatment with **gonadotropin therapy** (e.g., exogenous FSH/LH) to induce ovulation. - Bromocriptine would not be effective as the primary issue is insufficient pituitary stimulation, not excess prolactin. *PID* - **Pelvic Inflammatory Disease (PID)** causes infertility by damaging the fallopian tubes, often requiring **antibiotics** to treat the infection and sometimes surgical intervention for adhesions. - Bromocriptine has no role in treating infections or tubal damage caused by PID.

Q: Which of the following statements is true regarding testicular feminization syndrome (androgen insensitivity syndrome)? a) Testes are present, b) Female habitus, c) XY genotype, d) Uterus present.

Presence of testes, female phenotype, and XY genotype.. ***Presence of testes, female phenotype, and XY genotype.*** - Testicular feminization syndrome, or **androgen insensitivity syndrome (AIS)**, is characterized by an **XY genotype** (chromosomal male) with a **female phenotype** due to the body's inability to respond to androgens. - Individuals with AIS possess **testes**, which produce androgens, but the target cells lack functional androgen receptors, leading to feminization. *Testes are present and XY genotype.* - While correct that **testes are present** and the genotype is **XY**, this option is incomplete as it doesn't mention the striking feature of the female phenotype. - The core of the syndrome is the discrepancy between the genetic sex and the external appearance, which is not fully captured. *Female phenotype with XY genotype.* - This statement is accurate regarding the **phenotype** and **genotype** but omits the presence of internal gonads (testes), which is a key diagnostic feature. - The presence of female external characteristics despite a male genotype is central to the diagnosis and understanding of AIS. *Presence of uterus and XY genotype.* - This statement is incorrect because individuals with complete androgen insensitivity syndrome **do not have a uterus**. - The **Müllerian inhibiting factor** produced by the testes during fetal development causes the regression of Müllerian ducts, preventing uterus formation.

Q: In Testicular Feminization syndrome, when is gonadectomy indicated?

At puberty. ***At puberty*** - Gonadectomy is recommended at puberty in individuals with **Androgen Insensitivity Syndrome (Testicular Feminization)** to minimize the risk of gonadal malignancy. - Delaying until puberty allows for the spontaneous development of **secondary sexual characteristics** (e.g., breast development) from endogenous estrogen produced by the testes. *Immediately after diagnosis* - Performing gonadectomy immediately would prevent the natural pubertal development and necessitate earlier **estrogen replacement therapy**. - The risk of **gonadal malignancy** is low before puberty in AIS. *Only if malignancy develops* - This approach is not recommended due to the increased risk of **gonadal tumors (gonadoblastoma, dysgerminoma)** associated with undescended testes in AIS, especially after puberty. - Prophylactic removal is preferred to avoid the development and potential spread of malignancy. *When signs of androgenization appear* - **Androgenization** (virilization) does not typically occur in complete AIS because the androgen receptors are *non-functional*, making the body unable to respond to androgens. - Therefore, waiting for signs of androgenization would not be relevant in managing complete AIS.

Question 1

A 21-year-old woman presents with complaints of primary amenorrhea. Her height is 153 cm, and her weight is 51 kg. She has well-developed breasts. She has no pubic or axillary hair and no hirsutism. Which of the following is the most probable diagnosis?

Accepted Answer

Complete androgen insensitivity syndrome

Answer

Turner's syndrome

Answer

Stein-Leventhal syndrome

Answer

Premature ovarian failure

Question 2

Which type of cancer is most commonly associated with polycystic ovarian syndrome (PCOS)?

Accepted Answer

Endometrial carcinoma

Answer

Ovarian carcinoma

Answer

Cervical carcinoma

Answer

Adrenal carcinoma

Question 3

Which of the following ovarian tumors is associated with precocious puberty in young girls?

Accepted Answer

Granulosa cell tumor

Answer

Immature teratoma

Answer

Dysgerminoma

Answer

Krukenberg tumor

Question 4

Which of the following does not cause female pseudohermaphroditism?

Accepted Answer

Theca cell tumor

Answer

Congenital adrenal hyperplasia

Answer

Leydig cell tumor

Answer

Hilus cell tumor

Question 5

In a clinical scenario where a patient does not experience withdrawal bleeding after the administration of estrogen followed by progestin, what does this indicate?

Accepted Answer

Uterine factor

Answer

Ovarian factors

Answer

Pituitary factor

Answer

Hypothalamic factor

Question 6

What is the management for women with polycystic ovary syndrome (PCOS) and hirsutism?

Accepted Answer

Ethinyl estradiol + Cyproterone Acetate

Answer

Ethinyl estradiol

Answer

Levonorgestrel

Answer

Ethinyl estradiol + Levonorgestrel

Question 7

At what age is menstruation considered precocious in females?

Accepted Answer

Before 10 years of age

Answer

After 12 years of age

Answer

At 12 years of age

Answer

At 11 years of age

Question 8

A 27-year-old female was prescribed bromocriptine for treatment of infertility in the outpatient department. What could be the possible reason?

Accepted Answer

Hyperprolactinemia

Answer

PID

Answer

Polycystic Ovary Syndrome (PCOS)

Answer

Hypogonadotropic Hypogonadism

Question 9

Which of the following statements is true regarding testicular feminization syndrome (androgen insensitivity syndrome)? a) Testes are present, b) Female habitus, c) XY genotype, d) Uterus present.

Accepted Answer

Presence of testes, female phenotype, and XY genotype.

Answer

Female phenotype with XY genotype.

Answer

Testes are present and XY genotype.

Answer

Presence of uterus and XY genotype.

Question 10

In Testicular Feminization syndrome, when is gonadectomy indicated?

Accepted Answer

At puberty

Answer

Only if malignancy develops

Answer

When signs of androgenization appear

Answer

Immediately after diagnosis

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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