Reproductive Endocrinology Practice Questions

Q: A 25-year-old woman presents with primary infertility and hirsutism. Laboratory results show elevated testosterone and an increased LH/FSH ratio. What is the diagnosis?

PCOS. **Correct Option: PCOS** - **Primary infertility**, **hirsutism**, **elevated testosterone**, and an **increased LH/FSH ratio** are classic diagnostic features of **polycystic ovary syndrome (PCOS)**. - PCOS is an endocrine disorder characterized by **hormonal imbalances** that affect ovarian function and lead to ovulatory dysfunction and hyperandrogenism. - The increased LH/FSH ratio (typically >2:1) is a characteristic finding that helps differentiate PCOS from other causes of hyperandrogenism. *Incorrect: Cushing's syndrome* - Cushing's syndrome is characterized by **excess cortisol** and typically presents with central obesity, moon facies, buffalo hump, and striae, which are not mentioned here. - While it can cause hirsutism and menstrual irregularities, an elevated LH/FSH ratio and primary infertility specifically point away from Cushing's. *Incorrect: Hyperprolactinemia* - **Hyperprolactinemia** primarily causes **amenorrhea** or oligomenorrhea, **galactorrhea**, and infertility due to suppression of GnRH and gonadotropins. - It does not typically present with elevated testosterone or an increased LH/FSH ratio. *Incorrect: Adrenal hyperplasia* - **Congenital adrenal hyperplasia (CAH)** can cause hirsutism and elevated androgens, but it usually presents in childhood with ambiguous genitalia or later with significant masculinization. - While it can lead to high androgens, the specific combination of an elevated LH/FSH ratio and primary infertility is more indicative of PCOS.

Q: A 15-year-old girl presents with weight gain, irregular menses, and hirsutism. Laboratory results show increased testosterone, an elevated LH/FSH ratio, and normal prolactin levels. Evaluate and determine the most effective long-term management.

Oral contraceptives + lifestyle modification. ***Oral contraceptives + lifestyle modification*** - **Oral contraceptives** are the cornerstone for managing **PCOS** symptoms like irregular menses and hirsutism by suppressing ovarian androgen production and providing continuous estrogen/progestin. - **Lifestyle modifications**, including diet and exercise, address the associated **weight gain** and **insulin resistance**, improving overall hormonal balance and long-term health outcomes. *Metformin + anti-androgens* - **Metformin** primarily targets **insulin resistance** and may help with menstrual regularity and weight, but it does not directly manage hirsutism as effectively as oral contraceptives. - **Anti-androgens** like spironolactone are effective for **hirsutism** but do not regulate menstrual cycles or provide contraception, making them less comprehensive as a sole long-term strategy. *Spironolactone + insulin sensitizers* - **Spironolactone** is an effective anti-androgen for **hirsutism**, but it can cause menstrual irregularities if not combined with hormonal contraception. - While **insulin sensitizers** (like metformin) address a key physiological aspect of PCOS, they don't offer the comprehensive symptomatic relief (menstrual regulation, contraception) provided by oral contraceptives. *GnRH analogs + surgical resection* - **GnRH analogs** are typically reserved for severe, unresponsive cases due to their potential side effects and are not a first-line long-term management strategy for typical PCOS. - **Surgical resection**, such as ovarian drilling, is rarely indicated for PCOS and is generally considered only for patients with infertility who do not respond to other treatments, not for routine long-term management of symptoms.

Q: A 26-year-old woman presents with primary amenorrhea, normal secondary sexual characteristics, and an absent uterus on ultrasound. What is the most likely diagnosis?

Mayer-Rokitansky-Küster-Hauser syndrome. ***Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome*** - This syndrome is characterized by **congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina** with **normal functioning ovaries**. - Patients present with **primary amenorrhea** despite having **normal secondary sexual characteristics** (normal breast development, pubic/axillary hair) due to functional ovaries producing estrogen. - **Normal 46,XX karyotype** with normal hormonal profile distinguishes this from other causes. *Turner syndrome* - Patients with Turner syndrome (45,XO karyotype) have **gonadal dysgenesis (streak gonads)** leading to **absent or poorly developed secondary sexual characteristics** due to lack of estrogen. - They present with primary amenorrhea and short stature, but the **normal secondary sexual development** in this patient excludes Turner syndrome. *Androgen insensitivity syndrome (AIS)* - Complete AIS patients have **46,XY karyotype** but are phenotypically female with **normal breast development** (due to peripheral conversion of testosterone to estrogen). - They have an **absent uterus and blind-ending vagina**, but typically present with **absent or sparse pubic/axillary hair** and have **undescended testes**. - The complete female phenotype with normal pubic hair pattern makes MRKH more likely. *Kallmann syndrome* - This is a form of **hypogonadotropic hypogonadism** due to **GnRH deficiency**, associated with **anosmia or hyposmia**. - Patients present with **delayed or absent puberty** and **poorly developed secondary sexual characteristics** due to low estrogen levels. - The presence of **normal secondary sexual characteristics** in this patient excludes Kallmann syndrome.

Q: A 32-year-old woman with polycystic ovary syndrome (PCOS) is experiencing difficulty conceiving. Which hormone imbalance is most likely responsible?

Increased androgens. ***Increased androgens*** - In PCOS, **increased androgen levels** (e.g., testosterone) from the ovaries and adrenal glands disrupt follicular development and ovulation, leading to **anovulation** and infertility. - These excess androgens contribute to characteristic PCOS symptoms like **hirsutism** and acne. *Increased FSH* - **FSH (follicle-stimulating hormone)** is typically normal or slightly elevated in PCOS, but its *relative* unbalance with LH (often high LH:FSH ratio) is more significant. - Markedly increased FSH usually indicates **primary ovarian insufficiency** or menopause, which is not the case in PCOS. *Decreased LH* - In PCOS, **luteinizing hormone (LH)** levels are typically **elevated**, not decreased, often leading to an increased LH to FSH ratio. - This elevated LH contributes to increased androgen production from the ovarian theca cells. *Decreased estrogens* - While anovulation can lead to fluctuations, **estrogen levels** in PCOS are generally **normal or even slightly elevated** due to the peripheral conversion of androgens into estrogens. - Persistent moderate estrogen levels, without progesterone surges, contribute to anovulatory cycles.

Q: A 27-year-old woman presents with a history of severe acne vulgaris unresponsive to multiple therapies. She has hirsutism, irregular menses, and obesity. Based on these findings, what is the most likely underlying condition?

Polycystic ovary syndrome (PCOS). ***Polycystic ovary syndrome (PCOS)*** - This patient's constellation of **severe acne**, **hirsutism**, **irregular menses**, and **obesity** are classic signs and symptoms of **PCOS**, driven by hormonal imbalances, particularly excess androgens. - PCOS is a common endocrine disorder characterized by **hyperandrogenism** (leading to acne and hirsutism) and **ovulatory dysfunction** (causing irregular menses), often associated with insulin resistance and obesity. *Congenital adrenal hyperplasia* - This condition is typically diagnosed in **infancy or childhood** due to ambiguous genitalia or early signs of androgen excess (e.g., precocious puberty). - While it can cause hirsutism and irregular menses, the late presentation and prominent obesity make it less likely than PCOS. *Cushing's syndrome* - Characterized by **central obesity**, **moon facies**, **buffalo hump**, striae, and hypertension due to chronic high cortisol levels. - While it can cause acne, hirsutism, and menstrual irregularities, the overall clinical picture, particularly the absence of other defining features like striae or prominent hypertension, points away from Cushing's. *Androgen-secreting tumor* - These tumors typically cause a **rapid onset** and **severe progression** of androgenic symptoms (hirsutism, virilization, deepening voice). - The patient's history suggests a more gradual development of symptoms, and tumors are generally associated with significantly higher androgen levels than typically seen in PCOS.

Q: FERNING is due to?

Estrogen & sodium chloride. ***Estrogen & sodium chloride*** - The ferning pattern observed in cervical mucus is primarily due to the presence of **sodium chloride** crystallizing in a specific pattern under the influence of **estrogen**. - High estrogen levels, typically seen around ovulation, increase the water content and salt concentration in cervical mucus, facilitating this characteristic fern-like crystallization. *Progesterone & sodium chloride* - While **progesterone** is present in cervical mucus, its effect is to create a more viscous, less watery mucus that generally **inhibits ferning**. - Progesterone causes the cervical mucus to become thick and cellular, making the crystalline fern pattern less prominent or absent. *HCG* - **Human Chorionic Gonadotropin (HCG)** is a hormone primarily associated with pregnancy and has no direct role in the phenomenon of ferning in cervical mucus. - HCG's main function is to maintain the corpus luteum and progesterone production during early pregnancy, which would actually suppress ferning. *None of the options* - This option is incorrect because the combination of **estrogen and sodium chloride** is the specific cause of ferning. - The other hormones listed have either an inhibitory effect on ferning or no direct involvement.

Q: Which of the following is not typically used in the management of Polycystic Ovary Syndrome (PCOS)?

Danazol. ***Danazol*** - **Danazol** is a synthetic androgen used primarily for conditions like **endometriosis** and **fibrocystic breast disease** due to its anti-estrogenic and weak androgenic effects. - Its androgenic properties would worsen symptoms like **hirsutism** and **acne** common in PCOS, making it an inappropriate treatment. *OC pills (Oral Contraceptive Pills)* - **OCPs** are a cornerstone of PCOS management, primarily to regulate menstrual cycles, reduce **androgen excess** (hirsutism, acne), and protect the endometrium. - They suppress ovarian androgen production and increase sex hormone-binding globulin (SHBG), which binds free testosterone. *Cyclical progesterone therapy* - This therapy is used in PCOS to induce regular withdrawal bleeds, thereby preventing **endometrial hyperplasia** and reducing the risk of **endometrial cancer**. - It does not address the underlying hormonal imbalances or androgen excess but manages the anovulation-related endometrial effects. *Myoinositol supplementation* - **Myoinositol** is commonly used as a supplement to improve **insulin sensitivity** in women with PCOS. - It can help regulate menstrual cycles and improve ovulatory function, particularly in women with **insulin resistance**.

Q: Which condition is characterized by a 'pearl necklace' appearance on ultrasound?

PCOS. ***PCOS (Polycystic Ovary Syndrome)*** - The "pearl necklace" appearance on ultrasound refers to multiple **small follicles (cysts)** arranged peripherally in the ovary, a classic finding in **PCOS**. - These peripheral cysts are typically **2-9 mm in diameter** and are often associated with other hormonal imbalances. *Ectopic pregnancy* - An ectopic pregnancy is characterized by a fertilized egg implanting outside the uterus, most commonly in the **fallopian tube**. - Ultrasound findings usually include an **adnexal mass** or a gestational sac outside the uterus, rather than diffusely cystic ovaries. *Pelvic Inflammatory Disease (PID)* - PID is an infection of the female reproductive organs, often leading to **inflammation** and **abscess formation** in the fallopian tubes and ovaries. - Ultrasound may show dilated, fluid-filled fallopian tubes (hydrosalpinx) or tubo-ovarian abscesses, not a "pearl necklace" appearance. *Endometriosis* - Endometriosis involves the growth of **endometrial tissue outside the uterus**, causing pain and potentially forming cysts called **endometriomas** (chocolate cysts). - Ultrasound typically reveals these endometriomas, which are single or multiple cysts with characteristic internal echoes, but not the diffuse pattern seen in PCOS.

Q: 20 year old female with primary amenorrhoea with normal presentation of everything except no axillary or pubic hair. What is the diagnosis?

Complete Androgen Insensitivity Syndrome (CAIS). ***Complete Androgen Insensitivity Syndrome (CAIS)*** - Females with **CAIS** have **primary amenorrhea** and an absence of **axillary** and **pubic hair**, despite normal breast development and female external genitalia. - This occurs because cells are unable to respond to androgens (testosterone), leading to **testes development** (often undescended) internally, but external feminization due to **estrogen action** and a lack of **androgen-dependent hair growth**. *Kallman syndrome* - Characterized by **primary amenorrhea** and **anosmia** (absence of the sense of smell) due to defective migration of **GnRH neurons**. - While it causes **hypogonadotropic hypogonadism** and primary amenorrhea, it does not typically present with a selective absence of axillary and pubic hair in an otherwise phenotypically normal female. *Turner syndrome* - A **chromosomal disorder (45,X)** characterized by **primary amenorrhea**, **short stature**, **webbed neck**, and **gonadal dysgenesis** (streak gonads). - Patients with Turner syndrome would present with distinct physical features and lack secondary sexual characteristics, not just an isolated absence of **axillary** and **pubic hair**. *Klinefelter syndrome* - This is a chromosomal condition (typically **47,XXY**) that affects **males**, leading to **hypogonadism**, **infertility**, and **gynecomastia**. - It would not be present in a female with primary amenorrhea, as it is a male diagnosis.

Question 1

A 25-year-old woman presents with primary infertility and hirsutism. Laboratory results show elevated testosterone and an increased LH/FSH ratio. What is the diagnosis?

Accepted Answer

PCOS

Answer

Cushing's syndrome

Answer

Hyperprolactinemia

Answer

Adrenal hyperplasia

Question 2

A 15-year-old girl presents with weight gain, irregular menses, and hirsutism. Laboratory results show increased testosterone, an elevated LH/FSH ratio, and normal prolactin levels. Evaluate and determine the most effective long-term management.

Accepted Answer

Oral contraceptives + lifestyle modification

Answer

Metformin + anti-androgens

Answer

Spironolactone + insulin sensitizers

Answer

GnRH analogs + surgical resection

Question 3

A 26-year-old woman presents with primary amenorrhea, normal secondary sexual characteristics, and an absent uterus on ultrasound. What is the most likely diagnosis?

Accepted Answer

Mayer-Rokitansky-Küster-Hauser syndrome

Answer

Turner syndrome

Answer

Androgen insensitivity syndrome

Answer

Kallmann syndrome

Question 4

A 32-year-old woman with polycystic ovary syndrome (PCOS) is experiencing difficulty conceiving. Which hormone imbalance is most likely responsible?

Accepted Answer

Increased androgens

Answer

Increased FSH

Answer

Decreased LH

Answer

Decreased estrogens

Question 5

A 15-year-old girl with suspected Turner syndrome presents with primary amenorrhea. What is the best initial investigation?

Accepted Answer

FSH levels

Answer

Pelvic ultrasound

Answer

TSH levels

Answer

Karyotyping

Question 6

A 27-year-old woman presents with a history of severe acne vulgaris unresponsive to multiple therapies. She has hirsutism, irregular menses, and obesity. Based on these findings, what is the most likely underlying condition?

Accepted Answer

Polycystic ovary syndrome (PCOS)

Answer

Congenital adrenal hyperplasia

Answer

Cushing's syndrome

Answer

Androgen-secreting tumor

Question 7

FERNING is due to?

Accepted Answer

Estrogen & sodium chloride

Answer

Progesterone & sodium chloride

Answer

HCG

Answer

None of the options

Question 8

Which of the following is not typically used in the management of Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Danazol

Answer

OC pills (Oral Contraceptive Pills)

Answer

Cyclical progesterone therapy

Answer

Myoinositol supplementation

Question 9

Which condition is characterized by a 'pearl necklace' appearance on ultrasound?

Accepted Answer

PCOS

Answer

Ectopic pregnancy

Answer

Pelvic Inflammatory Disease (PID)

Answer

Endometriosis

Question 10

20 year old female with primary amenorrhoea with normal presentation of everything except no axillary or pubic hair. What is the diagnosis?

Accepted Answer

Complete Androgen Insensitivity Syndrome (CAIS)

Answer

Kallman syndrome

Answer

Turner syndrome

Answer

Klinefelter syndrome

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

On this page

Practice by Chapter

Want unlimited practice?