Reproductive Endocrinology Practice Questions

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: Amenorrhoea following hyperprolactinemia is caused by ?

Inhibition of GnRH pulse secretion. ***Inhibition of GnRH pulse secretion*** - Elevated **prolactin** levels (hyperprolactinemia) directly **suppress the pulsatile release of GnRH** from the hypothalamus. - This suppression leads to decreased FSH/LH secretion, disrupting the menstrual cycle and causing amenorrhea. *Inhibition of adrenal steroidogenesis* - Hyperprolactinemia does not primarily inhibit **adrenal steroidogenesis**; its main reproductive effects are at the hypothalamic-pituitary-gonadal axis. - Adrenal insufficiency would present with a different clinical picture, not typically isolated amenorrhea due to hyperprolactinemia. *It causes hypogonadotropic hypogonadism* - While hyperprolactinemia *leads to* **hypogonadotropic hypogonadism**, this option describes a consequence rather than the direct mechanism of amenorrhea. - The mechanism is *how* the hypogonadotropic hypogonadism is caused, which is through GnRH inhibition. *It leads to formation of ovarian cysts* - Hyperprolactinemia generally does not lead to the formation of **ovarian cysts**; it primarily suppresses ovarian function rather than stimulating cyst formation. - Polycystic ovary syndrome (PCOS) is associated with ovarian cysts but has different hormonal imbalances, including elevated androgens and insulin resistance.

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.

Q: Which serum level is increased in premature ovarian failure?

Serum FSH. ***Serum FSH*** - In **premature ovarian failure**, the ovaries fail to produce sufficient estrogen and inhibin, leading to a loss of negative feedback on the pituitary gland. - This lack of negative feedback results in continuously **elevated levels of FSH** as the pituitary tries to stimulate the non-responsive ovaries. *Serum Inhibin* - **Inhibin** is a hormone produced by ovarian granulosa cells, which normally inhibits FSH secretion. - In premature ovarian failure, due to ovarian dysfunction, **inhibin levels are typically decreased**, not increased. *Serum Estradiol* - **Estradiol** is the primary estrogen produced by the ovaries. - In premature ovarian failure, the ovaries are failing, resulting in **decreased production of estrogen/estradiol**. *Serum Progesterone* - **Progesterone** is primarily produced after ovulation by the corpus luteum. - In premature ovarian failure, ovulation is impaired or absent, leading to **low or undetectable progesterone levels**.

Q: Which condition is associated with HAIR-AN syndrome?

Polycystic Ovary Syndrome (PCOS). ***Polycystic Ovary Syndrome (PCOS)*** - **HAIR-AN syndrome** is a specific, severe form of **PCOS**, characterized by **HyperAndrogenism**, **Insulin Resistance**, and severe **Acanthosis Nigricans**. - It represents the most pronounced metabolic and endocrine abnormalities associated with PCOS, often with significant hyperinsulinemia. *Endometriosis* - Endometriosis involves the growth of **endometrial-like tissue outside the uterus**, causing pain and infertility. - It is not directly linked to the metabolic and hormonal disturbances seen in HAIR-AN syndrome. *CA ovary* - **Ovarian cancer** is a malignant proliferation of ovarian cells, which is not associated with the unique features of **hyperandrogenism**, **insulin resistance**, or **acanthosis nigricans** that define HAIR-AN syndrome. - Ovarian tumors can be hormone-producing, but this is distinct from the syndrome's chronic metabolic dysregulation. *Adrenal tumours* - **Adrenal tumors** can cause **hyperandrogenism** in some cases, leading to symptoms like hirsutism, but they typically do not present with the constellation of **insulin resistance** and severe **acanthosis nigricans** that define HAIR-AN syndrome. - The primary defect in HAIR-AN is ovarian and metabolic, rather than adrenal.

Q: Which hormone is known to be elevated in Polycystic Ovary Syndrome (PCOS)?

Luteinizing Hormone (LH). ***Luteinizing Hormone (LH)*** - In **Polycystic Ovary Syndrome (PCOS)**, there is often an elevated **Luteinizing Hormone (LH)** level, leading to an increased **LH:FSH ratio**. - This high LH level contributes to **increased androgen production** by the ovaries, a key feature of PCOS. *FSH* - **Follicle-stimulating hormone (FSH)** levels are typically normal or even low in PCOS, contributing to the **imbalance with LH**. - This relative deficiency of FSH impairs proper **follicle maturation**, leading to anovulation and cyst formation. *Estrogen* - While **estrogen** levels can be normal or slightly elevated due to peripheral conversion of androgens, they are not primarily responsible for the characteristic hormonal imbalance in PCOS. - The elevated **androgens** in PCOS are converted to estrogen in adipose tissue, but this is a secondary effect. *TSH* - **Thyroid-stimulating hormone (TSH)** is involved in thyroid function and is generally unrelated to the **pathophysiology of PCOS**, although thyroid disorders can co-exist with PCOS. - Elevated TSH suggests **hypothyroidism**, a distinct endocrine condition that would present with different symptoms.

Q: In Stein-Leventhal syndrome, which hormone is raised?

LH. ***LH*** - In **Stein-Leventhal syndrome** (Polycystic Ovary Syndrome, PCOS), there is an elevated **LH (Luteinizing Hormone)** level. - This high LH-to-FSH ratio contributes to increased **androgen production** by the ovarian theca cells, leading to symptoms like hirsutism and anovulation. *FSH* - **FSH (Follicle-Stimulating Hormone)** levels are typically normal or even low in PCOS, contributing to the elevated LH:FSH ratio. - Low FSH levels impair proper follicle maturation, leading to **anovulation** and the characteristic polycystic appearance of the ovaries. *GnRH* - **GnRH (Gonadotropin-Releasing Hormone)** secretion can be altered in PCOS, often showing increased pulse frequency, which preferentially stimulates LH release over FSH. - However, **GnRH levels themselves are not directly measured** as "raised" in the clinical diagnostic criteria for PCOS. *Progesterone* - **Progesterone** levels are often low or absent in PCOS, particularly in the luteal phase, due to **anovulation**. - The lack of regular ovulation means no corpus luteum forms, which is responsible for progesterone production after ovulation.

Q: What is the primary hormonal cause of anovulatory dysfunctional uterine bleeding (DUB)?

Insufficient progesterone due to anovulation. ***Insufficient progesterone due to anovulation*** - Anovulation prevents the formation of a **corpus luteum**, which is responsible for producing progesterone. - The lack of progesterone leads to an **unstable, proliferative endometrium** that eventually sheds irregularly, causing abnormal uterine bleeding. - This is the **primary hormonal defect** in anovulatory DUB. *Excess estrogen production from ovarian follicles* - While **unopposed estrogen** is present in anovulatory cycles, the primary issue is the *absence of progesterone*, not necessarily excess estrogen production. - Estrogen levels may be normal or even low, but without progesterone to stabilize the endometrium, irregular shedding occurs. - Excess estrogen primarily leads to **endometrial hyperplasia** rather than irregular bleeding. *Hypothalamic dysfunction affecting ovulation* - Hypothalamic dysfunction (e.g., due to stress, extreme exercise) can be an *underlying cause* of anovulation. - However, the *primary hormonal mechanism* of the bleeding itself is the subsequent lack of progesterone, not the hypothalamic dysfunction directly. *High levels of progesterone due to luteal phase defect* - A **luteal phase defect** involves *insufficient* progesterone production or response, not high levels. - High progesterone levels would stabilize the endometrium and promote regular shedding, preventing DUB.

Q: Which of the following statements about Polycystic Ovary Syndrome (PCOS) is false?

Elevated FSH/LH ratio. ***Elevated FSH/LH ratio*** - In PCOS, there is typically a **decreased FSH/LH ratio** (or increased LH/FSH ratio) due to elevated LH levels and relatively normal or suppressed FSH. This is a key diagnostic feature. - An elevated FSH/LH ratio is more commonly seen in conditions like **premature ovarian insufficiency**. *Increased DHEA levels* - **Dehydroepiandrosterone (DHEA)**, specifically DHEA-S, can be elevated in PCOS as it is an adrenal androgen often increased in this condition. - This contributes to the **hyperandrogenism** seen in PCOS. *Elevated LH levels* - High LH levels are a hallmark of PCOS, leading to increased **androgen production** by the ovarian theca cells. - This contributes to the characteristic **anovulation** and follicular arrest in the ovaries. *Increased testosterone levels* - Elevated **testosterone** (and other androgens) is a central feature of PCOS, causing symptoms like hirsutism, acne, and male-pattern baldness. - This increase is primarily due to enhanced ovarian androgen production stimulated by high LH and insulin resistance.

Q: Ovulation occurs how long after the LH surge peak?

12-24 hours. ***12-24 hours*** - Ovulation, the release of a mature egg from the **ovary**, typically occurs within **12 to 24 hours after the peak of the luteinizing hormone (LH) surge**. - The LH surge itself usually lasts 24 to 48 hours and is a critical signal for the final maturation and release of the oocyte. *24-48 hours* - While the **LH surge** can last up to 48 hours, **ovulation** (the actual release of the egg) generally happens more rapidly, usually within 12-24 hours of the *peak* of this surge. - This timeframe is a common misconception, as it refers more to the duration of the surge rather than the precise timing of ovulation post-peak. *48-72 hours* - Ovulation rarely occurs this late after the peak of the **LH surge**; if it does, it suggests a potential delay or irregularity in the **ovulatory process**. - The window for successful fertilization is relatively narrow and aligns with the more immediate post-surge timing. *72-96 hours* - This time frame is significantly beyond the typical window for **ovulation** following the **LH surge**. - By this point, the egg would have either been released or the ovulatory event would have passed without the egg releasing.

Question 1

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 2

Amenorrhoea following hyperprolactinemia is caused by ?

Accepted Answer

Inhibition of GnRH pulse secretion

Answer

It leads to formation of ovarian cysts

Answer

Inhibition of adrenal steroidogenesis

Answer

It causes hypogonadotropic hypogonadism

Question 3

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

Question 4

Which serum level is increased in premature ovarian failure?

Accepted Answer

Serum FSH

Answer

Serum Inhibin

Answer

Serum Estradiol

Answer

Serum Progesterone

Question 5

Which condition is associated with HAIR-AN syndrome?

Accepted Answer

Polycystic Ovary Syndrome (PCOS)

Answer

CA ovary

Answer

Adrenal tumours

Answer

Endometriosis

Question 6

Which hormone is known to be elevated in Polycystic Ovary Syndrome (PCOS)?

Accepted Answer

Luteinizing Hormone (LH)

Answer

FSH

Answer

Estrogen

Answer

TSH

Question 7

In Stein-Leventhal syndrome, which hormone is raised?

Accepted Answer

LH

Answer

FSH

Answer

GnRH

Answer

Progesterone

Question 8

What is the primary hormonal cause of anovulatory dysfunctional uterine bleeding (DUB)?

Accepted Answer

Insufficient progesterone due to anovulation

Answer

Excess estrogen production from ovarian follicles

Answer

Hypothalamic dysfunction affecting ovulation

Answer

High levels of progesterone due to luteal phase defect

Question 9

Which of the following statements about Polycystic Ovary Syndrome (PCOS) is false?

Accepted Answer

Elevated FSH/LH ratio

Answer

Increased DHEA levels

Answer

Elevated LH levels

Answer

Increased testosterone levels

Question 10

Ovulation occurs how long after the LH surge peak?

Accepted Answer

12-24 hours

Answer

48-72 hours

Answer

72-96 hours

Answer

24-48 hours

Reproductive Endocrinology — MCQs

Reproductive Endocrinology — MCQs

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