Reproductive Endocrinology Practice Questions

Q: Match the following conditions with their hormonal profiles: Condition Hormonal Profile 1. PCOS A. Normal FSH, Normal LH, Normal Estradiol B. Decreased FSH, Decreased LH, Decreased 2. Primary Ovarian Failure Estradiol C. Increased LH, Normal to Low FSH (High 3. Asherman Syndrome LH:FSH ratio) 4. Sheehan Syndrome D. Markedly Increased FSH, Low Estradiol

1-C, 2-D, 3-A, 4-B. ***1-C, 2-D, 3-A, 4-B*** - **PCOS (1-C)** is classically associated with an **increased LH:FSH ratio** (often >2:1 or >3:1) due to dysfunctional feedback mechanisms, while **Primary Ovarian Failure (2-D)** presents with **hypergonadotropic hypogonadism** characterized by **markedly elevated FSH** due to lack of negative feedback from the ovaries. - **Asherman Syndrome (3-A)** is an anatomical cause of amenorrhea due to intrauterine adhesions, meaning the **hypothalamic-pituitary-ovarian axis** remains intact, resulting in **normal hormonal levels**; conversely, **Sheehan Syndrome (4-B)** is caused by pituitary necrosis after postpartum hemorrhage, leading to **hypogonadotropic hypogonadism** (decreased FSH, LH, and Estradiol). *1-A, 2-B, 3-C, 4-D* - This sequence incorrectly maps **Asherman Syndrome** to PCOS and **Sheehan Syndrome** to ovarian failure. - Asherman Syndrome does not typically present with the hormonal dysregulation seen in PCOS or specific pituitary failure. *1-D, 2-C, 3-B, 4-A* - This sequence incorrectly associates **PCOS** with the high FSH of ovarian failure and **Primary Ovarian Failure** with the LH:FSH ratio pattern of PCOS. - These endocrine profiles are fundamentally reversed compared to their physiological mechanisms. *1-C, 2-A, 3-D, 4-B* - This sequence incorrectly identifies **Asherman Syndrome** as having the high FSH profile associated with ovarian failure. - Furthermore, it mistakenly suggests **Primary Ovarian Failure** has a normal hormonal profile, when it is actually defined by elevated gonadotropins.

Q: A 21-year-old girl presents with primary amenorrhea. Examination shows absent uterus, present breast development, and sparse pubic and axillary hair. What is the genetic etiology?

MRKH. ***Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome*** - Characterized by **Müllerian agenesis** (absent uterus and upper two-thirds of the vagina), which explains the primary amenorrhea despite normal ovarian function. - Patients have a **46,XX** karyotype, normal breast development due to functional ovaries, and normal secondary sexual characteristics, though pubic hair may be lighter depending on individual variance. *Androgen insensitivity syndrome (AIS)* - Presents with **46,XY karyotype** and **testis** (often undescended) rather than ovaries, and markedly absent pubic and axillary hair due to lack of androgen effect. - While breast development is present, it is due to aromatization of testicular testosterone to estrogen; this is distinguished from MRKH by the presence of testes and absent uterus. *Turner's syndrome* - Presents with **streak gonads** and hypergonadotropic hypogonadism, meaning patients typically have **absent breast development** without hormone replacement therapy. - Associated with a **45,X karyotype**, short stature, and other phenotypic features like webbed neck, rather than normal development with absent uterus. *Congenital adrenal hyperplasia (CAH)* - Typically presents with **ambiguous genitalia** in infancy due to virilization, though late-onset forms may present later. - Patients usually have a uterus, and findings typically involve excessive androgen production (acne, hirsutism, menstrual irregularities) rather than absent Müllerian structures.

Q: A 24-year-old nulliparous woman presents with secondary amenorrhea for 6 months. She is a competitive marathon runner training 70 miles per week with 12% body fat. Labs show: LH 1.2 mIU/mL (normal follicular phase: 2-10), FSH 2.1 mIU/mL (normal: 3-10), estradiol 15 pg/mL (normal follicular: 30-100), prolactin 14 ng/mL (normal: <25), TSH 2.1 mIU/L. Apply these findings to determine the mechanism of her amenorrhea.

Hypothalamic amenorrhea from energy deficit and low leptin. ***Hypothalamic amenorrhea from energy deficit and low leptin*** - This clinical scenario describes **functional hypothalamic amenorrhea (FHA)**, where excessive exercise and low body fat lead to suppressed **GnRH pulsatility** and low levels of **LH, FSH, and estradiol**. - Chronic energy deficit and decreased adipose tissue result in low **leptin levels**, which signals the hypothalamus to downregulate the reproductive axis to conserve energy. *Primary ovarian insufficiency from autoimmune destruction* - This condition presents with **hypergonadotropic hypogonadism**, characterized by **elevated FSH** and LH levels due to lack of negative feedback from the ovaries. - The patient has **low-normal gonadotropins**, which rules out ovarian failure or premature depletion of follicles. *Polycystic ovary syndrome with LH/FSH ratio abnormality* - PCOS typically presents with **hyperandrogenism** (e.g., hirsutism, acne) and an **increased LH/FSH ratio**, rather than the low levels seen here. - Patients with PCOS are more likely to exhibit **menstrual irregularities** or oligomenorrhea associated with insulin resistance rather than exercise-induced hypothalamic suppression. *Pituitary adenoma causing hyperprolactinemia* - A prolactinoma would cause **elevated prolactin** levels, which inhibit GnRH secretion, but this patient's prolactin is within the **normal range**. - Pituitary causes are also usually associated with other symptoms like headaches or **visual field defects** if the tumor is a macroadenoma. *Asherman syndrome from endometrial adhesions* - This diagnosis is unlikely in a **nulliparous woman** without a history of uterine instrumentation or intrauterine infection. - Patients with Asherman syndrome have normal hormone levels (**ovulatory cycles**) because the pathology is structural (uterine) rather than hormonal (hypothalamic-pituitary).

Q: Testicular feminization syndrome is characterized by all of the following except?

Presence of Barr body. **Explanation:** **Testicular Feminization Syndrome (now known as Complete Androgen Insensitivity Syndrome - CAIS)** is a condition where a genetic male (46, XY) has a total resistance to androgens due to a defect in the androgen receptor. **Why Option D is the Correct Answer:** The **Barr body** represents an inactivated X chromosome, typically found in individuals with more than one X chromosome (e.g., 46, XX females or 47, XXY males). Since CAIS patients have a **46, XY genotype**, they possess only one X chromosome, which remains active. Therefore, they are **Barr body negative**. **Analysis of Other Options:** * **A. Absent uterus:** In these patients, the testes are present (usually intra-abdominal) and secrete **Anti-Müllerian Hormone (AMH)**. AMH causes the regression of Müllerian structures, leading to the absence of the uterus, fallopian tubes, and upper third of the vagina. * **B. Primary amenorrhea:** Due to the absence of a uterus and ovaries, these patients typically present during puberty with a failure to start menstruation. * **C. Normal breast development:** Peripheral conversion of testosterone to estrogen (aromatization) occurs. Since there is no androgen action to oppose this estrogen, patients develop normal, often feminine, breast contours (though the nipples/areolae may be pale). **High-Yield Clinical Pearls for NEET-PG:** * **Karyotype:** 46, XY (Genetically male, Phenotypically female). * **Gonads:** Testes (Risk of gonadoblastoma; gonadectomy is recommended after puberty/attainment of height). * **Hair:** Characteristically **absent or scanty** axillary and pubic hair (due to androgen resistance). * **Vagina:** Blind-ending pouch (short vagina). * **Differential Diagnosis:** **Müllerian Agenesis (MRKH Syndrome)**. Distinguishing factor: MRKH has a 46, XX karyotype, normal pubic hair, and normal ovaries.

Q: A female presents with normal breast development but scanty pubic hair. What is the most likely diagnosis?

Testicular feminizing syndrome. **Explanation:** The clinical presentation of **normal breast development** paired with **scanty or absent pubic/axillary hair** is a classic hallmark of **Androgen Insensitivity Syndrome (AIS)**, historically known as **Testicular Feminizing Syndrome**. **1. Why the Correct Answer is Right:** In AIS, the individual has a **46, XY** karyotype and functioning testes that produce testosterone. However, due to a defect in androgen receptors, the body cannot respond to testosterone. * **Breast Development:** Occurs because the high levels of testosterone are peripherally converted to estrogen (aromatization). * **Scanty Pubic Hair:** Pubic and axillary hair growth is dependent on androgens. Since the receptors are non-functional, hair growth is minimal or absent. * **Anatomy:** MIF (Müllerian Inhibiting Factor) is produced, so there is no uterus or fallopian tubes (blind-ending vagina). **2. Why Incorrect Options are Wrong:** * **Turner’s Syndrome (45, XO):** Characterized by "streak gonads" and low estrogen. Patients typically present with **primary amenorrhea and absent breast development** (sexual infantilism). * **Müllerian Agenesis (MRKH Syndrome):** These patients are **46, XX** with normal ovaries. They have **normal breast development AND normal pubic hair** (since androgen receptors are functional), but lack a uterus and upper vagina. * **Gonadal Dysgenesis:** Similar to Turner’s, the lack of functional gonads leads to estrogen deficiency, resulting in a lack of secondary sexual characteristics (no breast development). **High-Yield Clinical Pearls for NEET-PG:** * **Karyotype:** AIS is 46, XY; MRKH is 46, XX. * **Gonads:** In AIS, testes are often found in the inguinal canal or abdomen (risk of gonadoblastoma; requires removal after puberty). * **Differential Diagnosis:** The presence or absence of pubic hair is the most important clinical differentiator between AIS (absent) and MRKH (present).

Question 1

Match the following conditions with their hormonal profiles:

Condition Hormonal Profile

1. PCOS A. Normal FSH, Normal LH, Normal Estradiol

B. Decreased FSH, Decreased LH, Decreased
2. Primary Ovarian Failure
Estradiol

C. Increased LH, Normal to Low FSH (High
3. Asherman Syndrome
LH:FSH ratio)

4. Sheehan Syndrome D. Markedly Increased FSH, Low Estradiol

Accepted Answer

1-C, 2-D, 3-A, 4-B

Answer

1-A, 2-B, 3-C, 4-D

Answer

1-D, 2-C, 3-B, 4-A

Answer

1-C, 2-A, 3-D, 4-B

Question 2

A 21-year-old girl presents with primary amenorrhea. Examination shows absent uterus, present
breast development, and sparse pubic and axillary hair. What is the genetic etiology?

Accepted Answer

MRKH

Answer

Androgen insensitivity

Answer

Turner's syndrome

Answer

CAH

Question 3

A 24-year-old nulliparous woman presents with secondary amenorrhea for 6 months. She is a competitive marathon runner training 70 miles per week with 12% body fat. Labs show: LH 1.2 mIU/mL (normal follicular phase: 2-10), FSH 2.1 mIU/mL (normal: 3-10), estradiol 15 pg/mL (normal follicular: 30-100), prolactin 14 ng/mL (normal: <25), TSH 2.1 mIU/L. Apply these findings to determine the mechanism of her amenorrhea.

Accepted Answer

Hypothalamic amenorrhea from energy deficit and low leptin

Answer

Primary ovarian insufficiency from autoimmune destruction

Answer

Polycystic ovary syndrome with LH/FSH ratio abnormality

Answer

Pituitary adenoma causing hyperprolactinemia

Answer

Asherman syndrome from endometrial adhesions

Question 4

Testicular feminization syndrome is characterized by all of the following except?

Accepted Answer

Presence of Barr body

Answer

Absent uterus

Answer

Primary amenorrhea

Answer

Normal breast development

Question 5

A female presents with normal breast development but scanty pubic hair. What is the most likely diagnosis?

Accepted Answer

Testicular feminizing syndrome

Answer

Turner's syndrome

Answer

Mullerian agenesis

Answer

Gonadal dysgenesis

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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