Reproductive Endocrinology Practice Questions

Q: A 12-year-old girl presents with primary amenorrhea. She has been raised as a girl, has not developed breast tissue, and ultrasound reveals absence of the uterus. Karyotyping shows a 46 XY chromosomal pattern. What is the most likely diagnosis?

Androgen insensitivity syndrome. ***Androgen Insensitivity Syndrome (AIS)*** - **46,XY karyotype with absent uterus** is the key diagnostic feature - testes produce Anti-Müllerian Hormone (AMH) which causes regression of Müllerian structures (uterus, fallopian tubes, upper vagina) - **Phenotypically female appearance** due to inability of tissues to respond to androgens, despite normal testosterone production - At **12 years of age**, breast development may not have occurred yet, though in complete AIS, breast development typically occurs at puberty due to peripheral conversion of testosterone to estrogen - **Testes are typically located in abdomen or inguinal canal** - must be removed due to malignancy risk after puberty - This is the **most common cause of 46,XY DSD presenting with female external genitalia** *Incorrect: MRKH Syndrome* - Mayer-Rokitansky-Küster-Hauser syndrome presents with **absent uterus but normal 46,XX karyotype** - These patients have **normal ovarian function** with normal breast development and secondary sexual characteristics - The **46,XY karyotype rules out MRKH** *Incorrect: 17-hydroxylase deficiency* - This enzyme deficiency affects both **glucocorticoid and sex steroid synthesis** - Classically presents with **hypertension and hypokalemia** due to excess mineralocorticoids (DOC, corticosterone) - In 46,XY individuals, causes undervirilization but does not explain the **absent uterus** - Müllerian regression still occurs from testicular AMH - **Does not fit the clinical picture** of absent uterus in 46,XY individual *Incorrect: Swyer Syndrome* - Pure gonadal dysgenesis with **46,XY karyotype but streak gonads** - Key differentiating feature: **uterus is PRESENT** because streak gonads do not produce AMH - These patients have **female external genitalia with normal Müllerian structures** - The **absent uterus in this case rules out Swyer syndrome**

Q: A 12-year-old female presents with Tanner stage II breast development and white, odorless vaginal discharge. This discharge is most likely due to the action of which hormone?

Estrogen. ***Estrogen*** - **Estrogen** levels rise during the initial phases of puberty (Tanner stage II), primarily driving secondary sexual characteristics like **breast development** and maturation of the vaginal epithelium. - Increased estrogen levels lead to enhanced mucus production by cervical glands and increased desquamation of vaginal epithelial cells, resulting in the normal, odorless, white discharge known as **physiologic leukorrhea** seen premenarche. *GnRH* - **Gonadotropin-releasing hormone (GnRH)** is the hypothalamic hormone that initiates puberty by stimulating the pituitary to release **FSH** and **LH**. - While GnRH initiates the hormonal cascade, it is the downstream production of **estrogen** by the ovaries that directly causes the changes in the genital tract mucosa resulting in vaginal discharge. *Inhibin B* - **Inhibin B** is predominantly produced by the **granulosa cells** of the developing ovarian follicles. - Its main function is to provide negative feedback to the pituitary gland, selectively inhibiting the secretion of **Follicle-Stimulating Hormone (FSH)**, and is not directly implicated in causing vaginal discharge. *Progesterone* - **Progesterone** is primarily produced by the corpus luteum after ovulation and plays a key role in preparing the endometrium for implantation. - In early puberty (Tanner stage II), progesterone levels are typically low as ovulatory cycles have not yet been established, and it does not directly cause the vaginal discharge seen at this stage.

Q: A 25-year-old female presents with irregular menstrual cycles, acne, and excessive hair growth. An ultrasound reveals multiple ovarian cysts. What is the most likely diagnosis?

Polycystic Ovary Syndrome (PCOS). ***Polycystic Ovary Syndrome (PCOS)*** - This diagnosis is strongly suggested by the combination of clinical hyperandrogenism (**hirsutism** and **acne**) and chronic **anovulation** (irregular menstrual cycles). - PCOS is further supported by the **polycystic ovarian morphology** seen on ultrasound, fulfilling the diagnostic criteria (often Rotterdam criteria). *Endometriosis* - Endometriosis is characterized by the presence of **endometrial tissue outside the uterus**, classically presenting with chronic pelvic pain or **dysmenorrhea** (painful periods). - It typically does not cause the severe **hyperandrogenism** (acne, hirsutism) or chronic anovulation seen in this patient. *Hypothyroidism* - While hypothyroidism is a common cause of menstrual irregularities, it typically causes symptoms such as fatigue, weight gain, and **cold intolerance**. - It does not cause signs of **hyperandrogenism** like acne and hirsutism, which are key differentiating features in this case. *Ovarian hyperstimulation syndrome (OHSS)* - OHSS is an iatrogenic condition, almost exclusively occurring after intensive **gonadotropin stimulation** used in fertility treatments. - It presents acutely with severe ovarian enlargement, abdominal distension, and potentially **third-spacing of fluids**, not as a chronic condition causing hirsutism.

Q: A 27-year-old woman presents with irregular periods, acne & excessive hair growth. What is the first line management?

Lifestyle modifications. ***Lifestyle modifications***- As many patients with **PCOS** are overweight or obese, lifestyle changes (diet and exercise) are crucial for tackling associated **insulin resistance** and obesity.- Weight loss, even modest amounts (5-10%), often significantly improves menstrual regularity, metabolic profiles, and symptoms of **hyperandrogenism**.*Metformin*- Used primarily to improve **insulin sensitivity** and may help regulate cycles, but it is typically initiated after lifestyle interventions have proven insufficient or when glucose intolerance is confirmed.- It is not recommended as the initial management strategy unless the patient has confirmed **Type 2 Diabetes** or severe insulin resistance.*OCPs*- Oral contraceptive pills are highly effective for managing symptoms like **hirsutism** (by increasing **SHBG** and decreasing free testosterone) and regulating menses.- While effective symptomatically, they are usually introduced after lifestyle changes have failed, or if symptoms are severe and require immediate hormonal suppression.*Clomiphene citrate*- This medication is specifically used as a **fertility treatment** to induce ovulation in anovulatory women with PCOS who are seeking pregnancy.- It does not treat the hyperandrogenism (acne, hirsutism) or metabolic issues associated with PCOS, and thus is not the first-line management for the presenting symptoms.

Q: A female presents with hirsutism, delayed periods, obesity. USG findings are given below. What is the likely diagnosis?

PCOD. ***PCOD*** - The clinical triad of **hirsutism** (excess hair growth), **oligomenorrhea** (delayed periods), and **obesity** are classic features of Polycystic Ovarian Disease (PCOD). - The ultrasound image shows multiple small, peripherally arranged follicles in an enlarged ovary, a classic finding known as the **"string of pearls"** sign, which fulfills one of the key **Rotterdam criteria** for diagnosis. *POI* - Primary Ovarian Insufficiency (POI) is characterized by amenorrhea and symptoms of estrogen deficiency (like hot flashes) before age 40, associated with elevated **FSH** levels. - Ultrasound in POI typically shows small, **atrophic ovaries** with very few or no visible follicles, which is the opposite of the enlarged, polycystic ovary shown. *OHSS* - Ovarian Hyperstimulation Syndrome (OHSS) is an acute, iatrogenic condition resulting from **fertility treatments** involving ovulation induction, not a chronic presentation. - Sonographically, OHSS presents with massively enlarged ovaries containing numerous large cysts, often accompanied by **ascites** and **pleural effusion**, which are not seen here. *Thecal luteal cyst* - Theca lutein cysts are caused by overstimulation from very high levels of **hCG**, commonly seen in conditions like **molar pregnancy** or multiple gestations. - These cysts are typically large, bilateral, and multiseptated, giving a **"soap-bubble"** appearance on ultrasound, which is distinct from the multiple small peripheral follicles of PCOD.

Q: A 36-year-old woman presents with secondary amenorrhea for the past 8 months. Laboratory investigations reveal FSH of 36 IU/L and AMH of 0.05 ng/mL. What is the most likely diagnosis?

Premature ovarian insufficiency (POI). ***Premature ovarian insufficiency (POI)*** - This diagnosis is defined by secondary amenorrhea before the age of 40 associated with **hypergonadotropic hypogonadism**. - The combination of severely elevated **FSH (36 IU/L)** and extremely low **AMH (0.05 ng/mL)** strongly indicates primary ovarian failure and depletion of the ovarian reserve. *Polycystic ovary syndrome (PCOS)* - PCOS is associated with normal or slightly low FSH levels and an elevated **LH:FSH ratio**. - Affected women usually have **normal or high AMH** levels due to an increased pool of small antral follicles, opposite of the findings here. *Hyperprolactinemia* - Amenorrhea is mediated by the inhibitory effect of prolactin on GnRH, leading to **hypogonadotropic hypogonadism** (low or normal FSH and LH). - The primary biochemical finding would be high **serum prolactin**, which doesn't match the high FSH observed. *Hypothalamic amenorrhea* - This is a form of **hypogonadotropic hypogonadism**, characterized by low **FSH** and **LH** levels due to impaired GnRH release. - It is inconsistent with the patient's markedly elevated FSH level, which signifies a problem originating in the ovary, not the hypothalamus.

Q: Which of the following cervical mucus smear represents the mid-cycle period?

B. ***Correct Option B*** - Image B shows **prominent ferning**, which is characteristic of cervical mucus during the **mid-cycle period** (periovulatory phase). At this time, increased estrogen levels cause cervical mucus to become thin, clear, and elastic, allowing for this fern-like crystallization pattern when dried on a slide. - This ferning pattern indicates high estrogen influence and is associated with increased **fertility** and sperm penetrability. *Incorrect Option A* - Image A displays a less pronounced ferning pattern, suggesting a **moderate estrogen effect**. - This pattern is more typical of the **early follicular phase** or late luteal phase, when estrogen levels are lower than at mid-cycle. *Incorrect Option C* - Image C shows **absent or minimal ferning**, indicating a low estrogen state. - This pattern is seen during the **luteal phase** (when progesterone dominates) or during pregnancy, or in postmenopausal women, when cervical mucus is thick and opaque, creating a barrier to sperm. *Incorrect Option "All of the above"* - Each image represents a distinct phase of the menstrual cycle based on the **ferning pattern** of cervical mucus. - Therefore, not all images can represent the mid-cycle period simultaneously.

Q: Which of the following are correct regarding androgen insensitivity syndrome? 1. Inherited as X-linked recessive disorder 2. Karyotype is 46 XXY 3. It is also called testicular feminization 4. Confirmation of diagnosis by gonadal biopsy Select the answer using the code given below.

1, 3 and 4. ***1, 3 and 4*** - Androgen insensitivity syndrome (AIS) is inherited as an **X-linked recessive disorder** due to mutations in the androgen receptor gene on the X chromosome - It is also known as **testicular feminization syndrome** because affected individuals have a male karyotype (46, XY) with testes but develop a female phenotype due to androgen resistance - **Gonadal biopsy** can confirm the presence of testicular tissue and is used in diagnosis, though clinical features, hormonal profiles (high testosterone with high LH), and genetic testing are also important diagnostic tools - Statement 2 is incorrect: the karyotype is **46, XY** (not 46, XXY) *1, 2 and 3* - This combination is incorrect because statement 2 is false - The karyotype in AIS is **46, XY**, not 46, XXY - A karyotype of **46, XXY** is characteristic of **Klinefelter syndrome**, not AIS - While statements 1 and 3 are correct, including the false statement 2 makes this option incorrect *1, 2 and 4* - This combination is incorrect because statement 2 is false - The standard karyotype for AIS is **46, XY** with functional testes producing normal to high levels of testosterone - Patients are genetically male but phenotypically female due to **androgen receptor insensitivity** - 46, XXY (Klinefelter syndrome) presents with small testes, hypogonadism, and gynecomastia—a completely different clinical picture *2, 3 and 4* - This combination is incorrect because statement 2 is false - AIS patients have **46, XY karyotype** with intra-abdominal or inguinal testes - They present with primary amenorrhea, absent uterus and upper vagina, and normal female external genitalia in complete AIS - The key pathophysiology is **androgen receptor defect**, not chromosomal aneuploidy

Q: Polycystic ovarian syndrome is associated with the following except

Ovarian carcinoma. ***Ovarian carcinoma*** - While polycystic ovarian syndrome (PCOS) increases the risk of **endometrial hyperplasia** and subsequently **endometrial carcinoma** due to unopposed estrogen, it is **not directly associated with an increased risk of ovarian carcinoma**. - Ovarian carcinoma is a distinct entity with different risk factors, and PCOS does not typically predispose to it. *Obesity* - **Obesity**, particularly central obesity, is highly prevalent in women with PCOS, affecting many metabolic and hormonal aspects of the syndrome. - It contributes to **insulin resistance**, which is a key feature of PCOS and exacerbates its symptoms. *Infertility* - **Anovulation** or oligo-ovulation, a hallmark of PCOS, directly leads to **infertility** in many affected women. - The hormonal imbalances in PCOS interfere with normal follicular development and ovulation. *Endometrial hyperplasia* - The **unopposed estrogen stimulation** resulting from chronic anovulation in PCOS leads to continuous endometrial proliferation without regular shedding. - This persistent stimulation increases the risk of developing **endometrial hyperplasia**, which can be a precursor to endometrial carcinoma.

Question 1

A 12-year-old girl presents with primary amenorrhea. She has been raised as a girl, has not developed breast tissue, and ultrasound reveals absence of the uterus. Karyotyping shows a 46 XY chromosomal pattern. What is the most likely diagnosis?

Accepted Answer

Androgen insensitivity syndrome

Answer

MRKH syndrome

Answer

17-hydroxylase deficiency

Answer

Swyer syndrome

Question 2

A 12-year-old female presents with Tanner stage II breast development and white, odorless vaginal discharge. This discharge is most likely due to the action of which hormone?

Accepted Answer

Estrogen

Answer

Inhibin B

Answer

GnRH

Answer

Progesterone

Question 3

A 25-year-old female presents with irregular menstrual cycles, acne, and excessive hair growth. An ultrasound reveals multiple ovarian cysts. What is the most likely diagnosis?

Accepted Answer

Polycystic Ovary Syndrome (PCOS)

Answer

Ovarian hyperstimulation syndrome (OHSS)

Answer

Hypothyroidism

Answer

Endometriosis

Question 4

A 27-year-old woman presents with irregular periods, acne & excessive hair growth. What is the first line management?

Accepted Answer

Lifestyle modifications

Answer

OCPs

Answer

Metformin

Answer

Clomiphene citrate

Question 5

A female presents with hirsutism, delayed periods, obesity. USG findings are given below. What is the likely diagnosis?

Accepted Answer

PCOD

Answer

Thecal luteal cyst

Answer

POI

Answer

OHSS

Question 6

A 36-year-old woman presents with secondary amenorrhea for the past 8 months. Laboratory investigations reveal FSH of 36 IU/L and AMH of 0.05 ng/mL. What is the most likely diagnosis?

Accepted Answer

Premature ovarian insufficiency (POI)

Answer

Hypothalamic amenorrhea

Answer

Polycystic ovary syndrome (PCOS)

Answer

Hyperprolactinemia

Question 7

Which of the following cervical mucus smear represents the mid-cycle period?

Accepted Answer

B

Answer

A

Answer

C

Answer

All of the above

Question 8

Which of the following are correct regarding androgen insensitivity syndrome?

1. Inherited as X-linked recessive disorder
2. Karyotype is 46 XXY
3. It is also called testicular feminization
4. Confirmation of diagnosis by gonadal biopsy Select the answer using the code given below.

Accepted Answer

1, 3 and 4

Answer

1, 2 and 3

Answer

1, 2 and 4

Answer

2, 3 and 4

Question 9

Which of the following are useful investigations for diagnosis of unresponsive endometrium as a cause of primary amenorrhoea?

1. Karyotype
2. Progesterone challenge test
3. Hormonal studies
4. Hysterosalpingography

Select the correct answer using the code given below.

Accepted Answer

1, 2 and 3

Answer

2, 3 and 4

Answer

1, 2 and 4

Answer

1, 3 and 4

Question 10

Polycystic ovarian syndrome is associated with the following except

Accepted Answer

Ovarian carcinoma

Answer

Obesity

Answer

Infertility

Answer

Endometrial hyperplasia

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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