Reproductive Endocrinology Practice Questions

Q: A 19-year-old woman presents with irregular menstrual cycles for the past 3 years and facial acne. Patient says she had menarche at the age of 11, established a regular cycle at 13, and had regular menses until the age of 16. Patient is sexually active with a single partner, and they use barrier contraception. They currently do not plan to get pregnant. There is no significant past medical history and she takes no current medications. Vitals are temperature 37.0℃ (98.6℉), blood pressure 125/85 mm Hg, pulse 69/min, respiratory rate 14/min, and oxygen saturation 99% on room air. Physical examination is significant for multiple comedones on her face. She also has hair on her upper lip, between her breasts, along with the abdominal midline, and on her forearms. There is hyperpigmentation of the axillary folds and near the nape of the neck. Laboratory tests are significant for the following: Sodium 141 mEq/L Potassium 4.1 mEq/L Chloride 101 mEq/L Bicarbonate 25 mEq/L BUN 12 mg/dL Creatinine 1.0 mg/dL Glucose (fasting) 131 mg/dL Bilirubin, conjugated 0.2 mg/dL Bilirubin, total 1.0 mg/dL AST (SGOT) 11 U/L ALT (SGPT) 12 U/L Alkaline Phosphatase 45 U/L WBC 6,500/mm3 RBC 4.80 x 106/mm3 Hematocrit 40.5% Hemoglobin 14.0 g/dL Platelet Count 215,000/mm3 TSH 4.4 μU/mL FSH 73 mIU/mL LH 210 mIU/mL Testosterone, total 129 ng/dL (ref: 6-86 ng/dL) β-hCG 1 mIU/mL Which of the following is the best course of treatment for this patient?

Oral contraceptives. ***Oral contraceptives*** - The patient's presentation with **irregular menses**, **hirsutism** (facial, periareolar, abdominal, forearm hair), **acne**, **acanthosis nigricans** (hyperpigmentation in axillary folds and nape of neck), and **elevated fasting glucose** suggests **Polycystic Ovary Syndrome (PCOS)** [1]. The **elevated LH to FSH ratio** and **elevated testosterone** further support this diagnosis [3]. - **Oral contraceptives** are the **first-line treatment** for managing the symptoms of PCOS in women who do not desire immediate pregnancy, as they help regulate menstrual cycles, reduce androgen levels, and improve acne and hirsutism [2]. *Goserelin* - **Goserelin** is a **GnRH agonist** that initially stimulates and then down-regulates gonadotropin release, leading to a **hypogonadal state**. It is used in conditions like **endometriosis**, **uterine fibroids**, or certain cancers. - This medication is **not indicated** for the management of PCOS, especially given the patient's symptoms and goals. *Clomiphene* - **Clomiphene citrate** is an **estrogen receptor modulator** used to induce ovulation in anovulatory women who wish to conceive [4]. - The patient is **not attempting to conceive** and is using contraception, making clomiphene an inappropriate treatment at this time [4]. *Finasteride* - **Finasteride** is a **5-alpha reductase inhibitor** that blocks the conversion of testosterone to its more potent form, dihydrotestosterone (DHT). It is primarily used to treat **androgenic alopecia** and **benign prostatic hyperplasia**. - While it can reduce hirsutism, it **does not address the menstrual irregularities or metabolic aspects of PCOS** and is generally considered a second-line option for hirsutism, often in conjunction with oral contraceptives.

Q: A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is:

Testicular feminization. Androgen Insensitivity Syndrome (also known as testicular feminization) is characterized by a phenotype where primary amenorrhea occurs in a girl with mature (Grade V) breast development but sparse or absent pubic and axillary hair (Grade II pubarche). In this condition, androgens are produced but their receptors are non-functional, leading to normal breast development through the peripheral conversion of androgens to estrogens while inhibiting androgen-dependent hair growth [3]. *Turner syndrome* - Characterized by gonadal dysgenesis [1], leading to primary amenorrhea and absent or rudimentary breast development (grade I thelarche). Patients typically present with characteristic physical features such as short stature [1], webbed neck, and coarctation of the aorta, which are not mentioned here. *Gonadal dysgenesis* - This is a broader term for abnormal development of the gonads [2], often leading to primary amenorrhea and lack of secondary sexual characteristics [1]. Unlike the described case, individuals with gonadal dysgenesis would not have mature breast development. *Mullerian agenesis* - Presents with primary amenorrhea due to the absence or hypoplasia of the uterus and upper vagina, but normal ovarian function. Patients with Mullerian agenesis would typically have normal breast development and normal pubic and axillary hair growth, as their androgen receptors are functional.

Q: A 35-year-old obese female presents with worsening hirsutism and elevated testosterone levels. Which of the following is true?

She is at risk of endometrial cancer. ***She is at risk of endometrial cancer*** - The combination of **obesity**, **hirsutism**, and **high testosterone** in a 35-year-old female is highly suggestive of **Polycystic Ovary Syndrome (PCOS)**. - PCOS is associated with **anovulation**, leading to unopposed estrogen exposure which increases the risk of **endometrial hyperplasia** and **cancer**. *She is at risk of cervical cancer* - **Cervical cancer** is primarily caused by persistent infection with **high-risk human papillomavirus (HPV)**. - The patient's presentation of hirsutism and high testosterone does not directly indicate an increased risk of cervical cancer. *She is at risk of ovarian cancer* - While PCOS is a risk factor for some types of cancer, it is not consistently linked to an increased risk of common **epithelial ovarian cancers**. - There is a debated, but not strongly established, link between PCOS and certain **sex cord stromal tumors** of the ovary, but not the more common forms of ovarian cancer. *None of the above* - This option is incorrect because the clinical picture strongly points to a condition (PCOS) that significantly increases the risk for endometrial cancer.

Q: Select the FALSE combination of chromosomal pattern and the syndrome:

Mayer Rokitansky-46XY. ***Mayer Rokitansky-46XY*** - Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by **vaginal agenesis** and **uterine anomalies** in individuals with a normal **46,XX** **karyotype**, making 46,XY an incorrect chromosomal pattern for this syndrome. - Individuals with MRKH have female external genitalia and normal ovarian function, differentiating it from disorders of sexual development involving sex chromosome abnormalities. *Swyer's syndrome-46XY* - This is a **correct** combination; Swyer's syndrome is a form of **XY gonadal dysgenesis** where individuals have a **46,XY karyotype** but develop female external genitalia due a non-functional SRY gene [2]. - These individuals typically present with **primary amenorrhea** and **streak gonads**, requiring hormone replacement therapy and gonadectomy to prevent gonadoblastoma. *Klinefelter's syndrome-47XXY* - This is a **correct** combination; Klinefelter's syndrome is characterized by the presence of an **extra X chromosome** in biological males, resulting in a **47,XXY karyotype** [2]. - Affected individuals typically exhibit **hypogonadism**, **infertility**, **gynecomastia**, and often have a taller stature [3]. *Turner's syndrome-45XO* - This is a **correct** combination; Turner's syndrome is characterized by the **absence or partial absence of one X chromosome** in females, resulting in a **45,XO karyotype** [1]. - Clinical features include **short stature**, **ovarian dysgenesis** (streak gonads), **primary amenorrhea**, and distinctive physical features such as a **webbed neck** and **broad chest** [1].

Q: The menstrual cycle can be best assessed by:

Sex steroid profile. ***Sex steroid profile*** - A **sex steroid profile** directly measures the levels of key hormones like **estrogen** and **progesterone** throughout the cycle, providing the most comprehensive and accurate assessment of ovarian function and phases [2]. - Changes in these hormones dictate the events of the menstrual cycle, including ovulation and endometrial preparation [2]. *Fern test* - The **fern test** assesses cervical mucus crystallization patterns, primarily indicating high estrogen levels, but it doesn't give a full picture of the entire cycle or progesterone influence [1]. - It's mainly used to confirm **rupture of membranes** in pregnancy or indicate the ovulatory phase [1]. *Spinnbarkeit phenomenon* - **Spinnbarkeit phenomenon** refers to the stretchiness of cervical mucus, which primarily indicates high estrogen levels around ovulation [1]. - While useful for ovulation detection, it does not provide a comprehensive assessment of the entire female sexual cycle or hormonal fluctuations [2]. *Cytology of endometrium* - **Endometrial cytology** involves examining cells from the uterine lining, which can show the effects of hormonal exposure but doesn't directly measure hormone levels or provide a dynamic assessment of the entire cycle [3]. - It is more commonly used to detect **abnormal cellular changes**, such as hyperplasia or malignancy.

Q: A 16-year-old girl comes to you with primary amenorrhea; on evaluation there is absent breast development, she has a normal stature, her FSH and LH levels are found to be high and she has a karyotype of 46XX. What is the probable diagnosis?

Gonadal dysgenesis. ***Gonadal dysgenesis*** - **Primary amenorrhea** with **absent breast development** and **high FSH/LH** (hypergonadotropic hypogonadism) in a **46,XX individual** with **normal stature** points to **46,XX gonadal dysgenesis** (pure gonadal dysgenesis). - In this condition, the gonads fail to develop properly despite a normal female karyotype, leading to non-functional streak ovaries that fail to produce estrogen, hence the lack of secondary sexual characteristics and elevated gonadotropins due to lack of negative feedback. - Unlike Turner syndrome, patients have normal stature and a normal 46,XX karyotype. *Testicular feminizing syndrome* - Individuals with **complete androgen insensitivity syndrome (CAIS)**, formerly called testicular feminizing syndrome, have a **46,XY karyotype** and develop external female characteristics due to complete androgen resistance. - They present with **primary amenorrhea** but typically have **well-developed breasts** (from peripheral aromatization of testosterone to estrogen) and a blind-ending vagina, which contradicts the absent breast development in this case. *Turner syndrome* - Characterized by a **45,X karyotype** (or variants with mosaicism) and typically presents with **short stature**, primary amenorrhea, and gonadal dysgenesis. - While it causes **primary amenorrhea** and **absent breast development** with high FSH/LH, the **normal stature** and **46,XX karyotype** in this patient rule out Turner syndrome. *Kallmann syndrome* - This condition is characterized by **hypogonadotropic hypogonadism** associated with **anosmia or hyposmia** due to defective GnRH secretion. - Patients present with **low FSH and LH levels**, which contradicts the **high gonadotropin levels** seen in this case.

Q: A 27-year-old female presented to OPD of infertility clinic. She was prescribed bromocriptine. What could be the possible reason?

Hyperprolactinemia. ***Hyperprolactinemia*** - **Bromocriptine** is a **dopamine agonist** that effectively reduces elevated prolactin levels, which can cause anovulation and infertility. - High prolactin can inhibit GnRH release leading to impaired follicular development and **infertility**. *Hypogonadotropic hypogonadism* - This condition involves low levels of **gonadotropins (LH and FSH)**, leading to reduced ovarian function. - Treatment typically involves **gonadotropin therapy** (e.g., FSH and LH agonists), not bromocriptine. *Pelvic inflammatory disease* - PID is an infection of the female reproductive organs, often leading to **fallopian tube blockage** and infertility. - Treatment involves **antibiotics** to clear the infection and often surgical correction, not bromocriptine. *Polycystic ovary syndrome* - PCOS is a hormonal disorder characterized by **anovulation**, hyperandrogenism, and polycystic ovaries. - Management often includes **lifestyle modifications**, metformin, clomiphene citrate, or letrozole, not primarily bromocriptine, unless there is co-existing hyperprolactinemia.

Q: A 28-year-old woman with a history of PCOS presents with amenorrhea. What is the most likely cause of her amenorrhea?

Anovulation. ***Anovulation*** - **Polycystic Ovary Syndrome (PCOS)** is primarily characterized by **anovulation** or oligo-ovulation, leading directly to irregular menstrual cycles or amenorrhea due to a lack of regular follicle rupture and corpus luteum formation. - The hormonal imbalances in PCOS, including elevated **androgens** and **insulin resistance**, disrupt the normal hypothalamic-pituitary-ovarian axis, preventing regular ovulation. - This is the **most direct and common cause** of amenorrhea in patients with PCOS. *Hyperprolactinemia* - While hyperprolactinemia can cause **amenorrhea** by inhibiting **GnRH** pulsatility, it is not the most common or primary cause of amenorrhea in a patient specifically diagnosed with **PCOS**. - Hyperprolactinemia would typically present with additional symptoms such as **galactorrhea**, which is not mentioned as a prominent feature of PCOS amenorrhea. *Hypothyroidism* - **Hypothyroidism** can cause menstrual irregularities, including **amenorrhea**, by affecting the metabolism of sex hormones and impacting the hypothalamic-pituitary-ovarian axis. - However, hypothyroidism is a separate endocrine disorder and not the direct or most likely cause of amenorrhea in a patient already known to have **PCOS**, which has its own well-defined mechanism for menstrual dysfunction. *Premature ovarian failure* - **Premature ovarian failure (POF)** is characterized by the cessation of ovarian function before age 40, leading to elevated **FSH** and **LH** levels and amenorrhea. - This condition is distinct from **PCOS**, where the ovaries are typically functional but anovulatory, and it would not be the expected cause of amenorrhea in a 28-year-old with a known history of PCOS.

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.

Question 1

A 19-year-old woman presents with irregular menstrual cycles for the past 3 years and facial acne. Patient says she had menarche at the age of 11, established a regular cycle at 13, and had regular menses until the age of 16. Patient is sexually active with a single partner, and they use barrier contraception. They currently do not plan to get pregnant. There is no significant past medical history and she takes no current medications. Vitals are temperature 37.0℃ (98.6℉), blood pressure 125/85 mm Hg, pulse 69/min, respiratory rate 14/min, and oxygen saturation 99% on room air. Physical examination is significant for multiple comedones on her face. She also has hair on her upper lip, between her breasts, along with the abdominal midline, and on her forearms. There is hyperpigmentation of the axillary folds and near the nape of the neck. Laboratory tests are significant for the following:
Sodium   141 mEq/L
Potassium   4.1 mEq/L
Chloride  101 mEq/L
Bicarbonate  25 mEq/L
BUN  12 mg/dL
Creatinine  1.0 mg/dL
Glucose (fasting)   131 mg/dL 
  Bilirubin, conjugated 0.2 mg/dL
Bilirubin, total   1.0 mg/dL
AST (SGOT)    11 U/L
ALT (SGPT)        12 U/L
Alkaline Phosphatase 45 U/L
  WBC  6,500/mm3
RBC 4.80 x 106/mm3 
Hematocrit  40.5%
Hemoglobin  14.0 g/dL
Platelet Count   215,000/mm3
  TSH    4.4 μU/mL   
FSH   73 mIU/mL
LH   210 mIU/mL
Testosterone, total  129 ng/dL (ref: 6-86 ng/dL)
β-hCG  1 mIU/mL
Which of the following is the best course of treatment for this patient?

Accepted Answer

Oral contraceptives

Answer

Goserelin

Answer

Clomiphene

Answer

Finasteride

Question 2

A girl presents with primary amenorrhea, grade V thelarche (mature breast), grade II pubarche (sparse growth of pubic hair) and no axillary hair. Likely diagnosis is:

Accepted Answer

Testicular feminization

Answer

Turner syndrome

Answer

Gonadal dysgenesis

Answer

Mullerian agenesis

Question 3

A 35-year-old obese female presents with worsening hirsutism and elevated testosterone levels. Which of the following is true?

Accepted Answer

She is at risk of endometrial cancer

Answer

She is at risk of cervical cancer

Answer

She is at risk of ovarian cancer

Answer

None of the above

Question 4

Select the FALSE combination of chromosomal pattern and the syndrome:

Accepted Answer

Mayer Rokitansky-46XY

Answer

Swyer's syndrome-46XY

Answer

Klinefelter's syndrome-47XXY

Answer

Turner's syndrome-45XO

Question 5

The menstrual cycle can be best assessed by:

Accepted Answer

Sex steroid profile

Answer

Fern test

Answer

Spinnbarkeit phenomenon

Answer

Cytology of endometrium

Question 6

A 16-year-old girl comes to you with primary amenorrhea; on evaluation there is absent breast development, she has a normal stature, her FSH and LH levels are found to be high and she has a karyotype of 46XX. What is the probable diagnosis?

Accepted Answer

Gonadal dysgenesis

Answer

Testicular feminizing syndrome

Answer

Turner syndrome

Answer

Kallmann syndrome

Question 7

A 27-year-old female presented to OPD of infertility clinic. She was prescribed bromocriptine. What could be the possible reason?

Accepted Answer

Hyperprolactinemia

Answer

Hypogonadotropic hypogonadism

Answer

Pelvic inflammatory disease

Answer

Polycystic ovary syndrome

Question 8

A 28-year-old woman with a history of PCOS presents with amenorrhea. What is the most likely cause of her amenorrhea?

Accepted Answer

Anovulation

Answer

Hyperprolactinemia

Answer

Hypothyroidism

Answer

Premature ovarian failure

Question 9

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 10

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

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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