Reproductive Endocrinology Practice Questions

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: 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: 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: 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.

Q: Fertilized ovum reaches the uterus at what day of menstrual cycle?

20th. ***20th*** - **Fertilization** occurs around day 14 of a 28-day cycle in the ampulla of the fallopian tube. - The fertilized ovum (zygote) takes approximately **3-4 days** to travel through the fallopian tube, reaching the uterine cavity around **day 17-18**. - By day 20-21, the blastocyst begins **implantation** into the endometrium. - Note: Some references cite day 20 as it marks the transition period when the blastocyst is fully in the uterus and beginning implantation. *6th* - This is far too early, as ovulation typically hasn't occurred yet by day 6. - On day 6, a woman is in the **follicular phase** with developing ovarian follicles. - Fertilization cannot occur before ovulation (around day 14). *14th* - Day 14 is typically the day of **ovulation** and fertilization in a 28-day cycle. - At this point, the egg has just been released from the ovary and is in the **fallopian tube**. - The fertilized ovum requires 3-4 days of transport to reach the uterine cavity. *25th* - By day 25, implantation would have already been completed (implantation occurs around day 20-21). - The embryo would be producing **hCG** and establishing placental connections. - If no pregnancy occurred, the corpus luteum would be regressing and the endometrium preparing for **menstruation**.

Q: A 17-year-old girl is seen for primary amenorrhea. There is no development of breasts or hair in the pubic or axillary region. Her height is 155 cm, and her weight is 48 kg. She has bilateral inguinal masses. The uterus, fallopian tube, and Ovary are absent on ultrasound examination. What is the most likely diagnosis?

Complete androgen insensitivity syndrome. ***Complete androgen insensitivity syndrome*** - This syndrome presents with **primary amenorrhea**, **absent secondary sexual characteristics** (no breast or pubic/axillary hair development), and **inguinal masses** representing undescended testes. - Despite being genetically male (XY), individuals with complete androgen insensitivity develop a female external phenotype due to the **inability of target tissues to respond to androgens**, while Müllerian inhibiting factor from the testes causes the absence of a uterus and fallopian tubes. *Turner syndrome* - Characterized by **short stature** and primary amenorrhea, but typically involves **gonadal dysgenesis** (streaky ovaries), leading to the absence of ovarian function and estrogen production. - Individuals with Turner syndrome are genotypically female (XO) and usually present with distinct physical features like a **webbed neck** and **coarctation of the aorta**, which are not mentioned. *Polycystic ovary syndrome* - Typically presents with primary or secondary amenorrhea, often accompanied by **hirsutism**, acne, and obesity, none of which are consistent with the described lack of secondary sexual characteristics in this case. - While it can cause menstrual irregularities, it does not involve the absence of a uterus or fallopian tubes, nor does it typically present with inguinal masses. *Hypergonadotropic hypogonadism* - This refers to conditions where the gonads fail to respond to pituitary gonadotropins, leading to low sex hormones and high FSH/LH levels (e.g., **premature ovarian failure** or **Turner syndrome**). - While it causes primary amenorrhea and lack of secondary sexual development, it does not explain the presence of inguinal masses or the complete absence of Mullerian structures (uterus, fallopian tubes) as seen in androgen insensitivity syndrome.

Question 1

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 2

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 3

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 4

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 5

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 6

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 7

FERNING is due to?

Accepted Answer

Estrogen & sodium chloride

Answer

Progesterone & sodium chloride

Answer

HCG

Answer

None of the options

Question 8

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

Question 9

Fertilized ovum reaches the uterus at what day of menstrual cycle?

Accepted Answer

20th

Answer

6th

Answer

14th

Answer

25th

Question 10

A 17-year-old girl is seen for primary amenorrhea. There is no development of breasts or hair in the pubic or axillary region. Her height is 155 cm, and her weight is 48 kg. She has bilateral inguinal masses. The uterus, fallopian tube, and Ovary are absent on ultrasound examination. What is the most likely diagnosis?

Accepted Answer

Complete androgen insensitivity syndrome

Answer

Turner syndrome

Answer

Polycystic ovary syndrome

Answer

Hypergonadotropic hypogonadism

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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