Hyperandrogenism — MCQs
What conditions is Metformin primarily used to treat?
A 5-year-old boy presents with pubic hair development, being tall, and having increased pigmentation of his genitalia and phallic enlargement, along with a blood pressure of 130/90 mmHg. Measurement of which of the following diagnostic hormones would be most likely to indicate a diagnosis of congenital adrenal hyperplasia?
Major androgen precursor from adrenal cortex is
A five year old boy presents with precocious puberty and a blood pressure of 130/80 mmHg. Estimation of which of the following will help in diagnosis -
A 13-year-old child visits the OPD with complaints of not attaining menarche, and has a karyotype of 46,XX. On examination, there is clitoromegaly. Which enzyme is likely deficient?
The following hormonal changes mark the Polycystic Ovarian Disease except
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?
Which of the following statements is true regarding Stein-Leventhal syndrome?
Diagnostic criteria for PCOS are: 1. Oligo/amenorrhea 2. Hyperandrogenism 3. Polycystic ovaries on ultrasound Which of the above are correct?
Preferred treatment for menorrhagia in reproductive age group?
Hyperandrogenism Indian Medical PG Practice Questions and MCQs
Question 1: What conditions is Metformin primarily used to treat?
- A. Only Type 2 Diabetes
- B. Only Polycystic Ovary Syndrome (PCOS)
- C. Both Type 2 Diabetes and Polycystic Ovary Syndrome (PCOS) (Correct Answer)
- D. Pregnancy Induced Hypertension
Explanation: ***Both Type 2 Diabetes and Polycystic Ovary Syndrome (PCOS)*** - **Metformin** is a first-line treatment for **Type 2 Diabetes** due to its ability to decrease hepatic glucose production and improve insulin sensitivity [1], [2]. - It is also commonly used off-label for **PCOS** to improve insulin resistance, ovulation, and reduce androgen levels. *Only Type 2 Diabetes* - While Metformin is a cornerstone for **Type 2 Diabetes** treatment, stating "only" is incorrect as it has other significant therapeutic uses [2]. - Its benefits extend beyond diabetes management, particularly in conditions involving **insulin resistance**. *Only Polycystic Ovary Syndrome (PCOS)* - Metformin is used in **PCOS**, but it is not the sole condition it treats, and its primary indication remains **Type 2 Diabetes** [2]. - This option incorrectly limits its application to just one condition, overlooking its major role in diabetes. *Pregnancy Induced Hypertension* - **Metformin** is not indicated for the treatment of **pregnancy-induced hypertension** (gestational hypertension). - Treatment for pregnancy-induced hypertension typically involves medications like **labetalol**, **methyldopa**, or **nifedipine**, with delivery being the definitive management for severe cases.
Question 2: A 5-year-old boy presents with pubic hair development, being tall, and having increased pigmentation of his genitalia and phallic enlargement, along with a blood pressure of 130/90 mmHg. Measurement of which of the following diagnostic hormones would be most likely to indicate a diagnosis of congenital adrenal hyperplasia?
- A. Increase 17-hydroxyprogesterone (Correct Answer)
- B. Increase cortisol
- C. Increase aldosterone
- D. Increase 11 deoxycortisol
Explanation: ***Increase 17 beta-hydroxyprogesterone*** - The clinical presentation of **precocious puberty** (pubic hair, phallic enlargement), **hypertension**, and **hyperpigmentation** strongly suggests **congenital adrenal hyperplasia (CAH)**. - In most common forms of CAH (e.g., 21-hydroxylase deficiency), there is an inability to convert **17-hydroxyprogesterone** to 11-deoxycortisol, leading to its significant accumulation. *Increase cortisol* - In CAH due to enzyme deficiencies, the adrenal glands are unable to synthesize sufficient **cortisol**, leading to its **decrease**, not an increase. - The low cortisol then triggers increased **ACTH** release, driving the overproduction of adrenal androgens and precursors. *Increase aldosterone* - Only in specific forms of CAH (e.g., 17-alpha-hydroxylase deficiency) would **aldosterone** be increased (due to shunting of precursors), but this is less common and would typically present with hypokalemia rather than hyperpigmentation. - In the more common 21-hydroxylase deficiency, **aldosterone can be decreased** (salt-wasting form), or normal, leading to hyponatremia and hyperkalemia. *Increase 11-deoxycortisol* - An increase in **11-deoxycortisol** is characteristic of **11-beta-hydroxylase deficiency**, another form of CAH. - While this form also causes **hypertension** and **virilization**, the most prominent precursor elevated in the majority of CAH cases (21-hydroxylase deficiency) is **17-hydroxyprogesterone**.
Question 3: Major androgen precursor from adrenal cortex is
- A. Testosterone
- B. Dihydrotestosterone
- C. DHEA (Correct Answer)
- D. Androstenedione
Explanation: ***DHEA*** - **Dehydroepiandrosterone (DHEA)** is the most abundant and potent **androgen precursor** produced by the adrenal cortex. - It is then converted in peripheral tissues to more potent androgens like testosterone and dihydrotestosterone. *Testosterone* - While testosterone is a potent androgen, its primary source is the **gonads** (testes in males, ovaries in females), not the adrenal cortex. - The adrenal cortex produces only small amounts of testosterone directly. *Dihydrotestosterone* - **Dihydrotestosterone (DHT)** is the most potent androgen, but it is primarily formed in target tissues from **testosterone** via the enzyme **5-alpha-reductase**. - The adrenal cortex does not directly produce significant amounts of DHT. *Androstenedione* - **Androstenedione** is also an adrenal androgen precursor, but it is produced in smaller quantities and is less potent than DHEA. - While it can be converted to testosterone, **DHEA** is considered the major overall androgen precursor from the adrenal gland due to its abundance.
Question 4: A five year old boy presents with precocious puberty and a blood pressure of 130/80 mmHg. Estimation of which of the following will help in diagnosis -
- A. Renin
- B. Aldosterone
- C. Cortisol
- D. 17 hydroxy-progesterone (Correct Answer)
Explanation: ***17 hydroxy-progesterone*** - The combination of **precocious puberty** and **hypertension** in a 5-year-old boy is highly suggestive of **congenital adrenal hyperplasia (CAH)**, specifically 11-hydroxylase deficiency or 21-hydroxylase deficiency. - Both 11- and 21-hydroxylase deficiencies result in the accumulation of **17-hydroxyprogesterone** and its precursors, making its estimation crucial for diagnosis. *Renin* - While hypertension may signal issues with the **renin-angiotensin-aldosterone system**, direct measurement of renin alone is not specific enough to diagnose CAH in this context. - CAH-related hypertension is due to mineralocorticoid excess (like deoxycorticosterone) or glucocorticoid deficiency, not primarily mediated by renin. *Aldosterone* - **Aldosterone levels** would be low or normal in CAH causing hypertension, as the elevated mineralocorticoids like deoxycorticosterone (DOC) suppress aldosterone production. - Measuring aldosterone would primarily help differentiate primary aldosteronism but not directly diagnose CAH. *Cortisol* - **Cortisol levels** are typically low in CAH due to the enzyme deficiencies, but this is a consequence of the disorder rather than the primary diagnostic marker. - The elevated precursors like 17-hydroxyprogesterone are more direct indicators of the blocked enzymatic pathway in CAH.
Question 5: A 13-year-old child visits the OPD with complaints of not attaining menarche, and has a karyotype of 46,XX. On examination, there is clitoromegaly. Which enzyme is likely deficient?
- A. 17-alpha hydroxylase
- B. 21-alpha hydroxylase (Correct Answer)
- C. 11-alpha hydroxylase
- D. 3-beta hydroxysteroid dehydrogenase
Explanation: ***21-alpha hydroxylase*** - A deficiency in **21-alpha hydroxylase** leads to **Congenital Adrenal Hyperplasia (CAH)**, shunting precursors towards **androgen production**. - In a 46,XX individual, this results in **virilization** such as **clitoromegaly** and **primary amenorrhea** due to excess androgens suppressing gonadotropin release and ovarian function. *17-alpha hydroxylase* - Deficiency in **17-alpha hydroxylase** in a 46,XX individual would lead to impaired sex steroid synthesis but **excess mineralocorticoids**, causing **hypertension** and **hypokalemia**. - While it causes **primary amenorrhea** due to lack of estrogen, it typically presents with **female external genitalia** that are underdeveloped, not virilized with clitoromegaly. *11-alpha hydroxylase* - There is no known functional enzyme called **11-alpha hydroxylase** in the steroid synthesis pathway. The relevant enzyme is **11-beta hydroxylase**, which, when deficient, leads to **CAH** with virilization and hypertension. - Assuming it refers to 11-beta hydroxylase, deficiency would cause **virilization** in 46,XX females but also lead to **hypertension** due to accumulation of 11-deoxycorticosterone, which is not mentioned in the presentation. *3-beta hydroxysteroid dehydrogenase* - Deficiency of **3-beta hydroxysteroid dehydrogenase** impairs the synthesis of **all classes of adrenal steroids** (glucocorticoids, mineralocorticoids, and sex steroids). - In 46,XX individuals, it leads to **females with ambiguous genitalia** (due to accumulation of DHEA) and **salt wasting**, but typically does not cause overt clitoromegaly and amenorrhea in the manner seen with 21-hydroxylase deficiency.
Question 6: The following hormonal changes mark the Polycystic Ovarian Disease except
- A. Raised LH, Low-to-normal FSH
- B. Hyperinsulinaemia
- C. Raised LH, Raised FSH (Correct Answer)
- D. Hyperandrogenism
Explanation: ***Raised LH, Raised FSH*** - In **Polycystic Ovarian Syndrome (PCOS)**, the characteristic LH/FSH ratio is typically **high LH and low-to-normal FSH**, not elevated levels of both. - A simultaneous elevation of both **LH and FSH** is more indicative of **primary ovarian failure** rather than PCOS, as the ovaries would no longer be producing sufficient hormones, leading to increased pituitary stimulation. *Raised LH, Low-to-normal FSH* - This hormonal pattern is a hallmark of **PCOS**, where the **increased LH** stimulates the ovarian theca cells to produce excess androgens. - The **low or normal FSH** prevents proper follicular development, contributing to anovulation and cyst formation. *Hyperinsulinaemia* - **Insulin resistance** and compensatory **hyperinsulinaemia** are very common findings in PCOS, driving increased ovarian androgen production. - High insulin levels potentiate the effect of LH on ovarian androgen synthesis and suppress hepatic production of sex hormone-binding globulin (SHBG). *Hyperandrogenism* - **Hyperandrogenism**, characterized by elevated levels of androgens (e.g., testosterone), is a central feature of PCOS and responsible for symptoms like hirsutism, acne, and alopecia. - This excess androgen production originates primarily from the ovaries and, to some extent, the adrenal glands, often exacerbated by hyperinsulinaemia.
Question 7: 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?
- A. Turner syndrome
- B. Polycystic ovary syndrome
- C. Hypergonadotropic hypogonadism
- D. Complete androgen insensitivity syndrome (Correct Answer)
Explanation: ***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 8: Which of the following statements is true regarding Stein-Leventhal syndrome?
- A. It is only characterized by oligomenorrhea and amenorrhea.
- B. It is only characterized by amenorrhea.
- C. It does not involve ovarian cysts.
- D. It is associated with enlarged ovaries and multiple follicular cysts. (Correct Answer)
Explanation: ***It is associated with enlarged ovaries and multiple follicular cysts.*** - Stein-Leventhal syndrome, now known as **polycystic ovary syndrome (PCOS)**, is characterized by the presence of **multiple small follicular cysts** on enlarged ovaries. - These cysts are immature follicles that fail to ovulate and instead accumulate in the ovarian stroma, leading to the characteristic **"string of pearls" appearance** on ultrasound. - This ovarian morphology, combined with biochemical hyperandrogenism and ovulatory dysfunction, forms the diagnostic triad of PCOS. *It is only characterized by oligomenorrhea and amenorrhea.* - This statement is **incorrect** because it limits PCOS to only menstrual irregularities, ignoring other cardinal features. - While **oligomenorrhea** and **amenorrhea** are common manifestations of anovulation in PCOS, the syndrome also includes **hyperandrogenism** (hirsutism, acne), **metabolic features** (insulin resistance), and **polycystic ovarian morphology**. - The Rotterdam criteria require at least 2 of 3 features: oligo/anovulation, hyperandrogenism, and polycystic ovaries on ultrasound. *It is only characterized by amenorrhea.* - This statement is incorrect because **amenorrhea** is just one possible menstrual irregularity seen in PCOS; many patients have **oligomenorrhea** or irregular cycles rather than complete absence of periods. - The word "only" makes this doubly incorrect by excluding all other features of the syndrome. *It does not involve ovarian cysts.* - This statement is completely incorrect as the presence of **multiple ovarian cysts** (polycystic ovaries) is a hallmark feature of Stein-Leventhal syndrome (PCOS). - The characteristic ultrasound finding shows **12 or more follicles (2-9 mm diameter)** in each ovary and/or increased ovarian volume (>10 mL).
Question 9: Diagnostic criteria for PCOS are: 1. Oligo/amenorrhea 2. Hyperandrogenism 3. Polycystic ovaries on ultrasound Which of the above are correct?
- A. 1, 2 and 3 (Correct Answer)
- B. 2 and 3 only
- C. 1 and 3 only
- D. 1 and 2 only
Explanation: ***1, 2 and 3*** - All three listed features are the **Rotterdam criteria** for diagnosing PCOS, which is the most widely used diagnostic system. - The Rotterdam criteria require **at least 2 out of 3** of the following: **(1) oligo-ovulation/anovulation** (clinically presenting as oligo/amenorrhea), **(2) clinical or biochemical hyperandrogenism**, and **(3) polycystic ovaries on ultrasound**. - Since all three listed features are valid diagnostic criteria, the correct answer includes all of them (1, 2, and 3). - Note: Diagnosis requires meeting 2 out of 3 criteria, but all 3 are recognized valid criteria. *2 and 3 only* - This option incorrectly excludes **oligo/amenorrhea** (oligo-ovulation/anovulation). - Oligo/amenorrhea is a core criterion in the Rotterdam criteria and represents the ovulatory dysfunction that is central to PCOS. - Excluding this criterion makes the option incomplete. *1 and 3 only* - This option incorrectly excludes **hyperandrogenism**. - Hyperandrogenism (clinical signs like hirsutism, acne, or biochemical elevation of androgens) is a fundamental criterion in the Rotterdam criteria. - It reflects the hormonal dysregulation that characterizes PCOS and cannot be excluded as a valid diagnostic criterion. *1 and 2 only* - This option incorrectly excludes **polycystic ovaries on ultrasound**. - The ultrasound finding of polycystic ovarian morphology (≥12 follicles measuring 2-9 mm or ovarian volume >10 mL) is an essential criterion in the Rotterdam criteria. - Excluding this morphological feature makes the option incomplete.
Question 10: Preferred treatment for menorrhagia in reproductive age group?
- A. Cu IUD
- B. Hysterectomy
- C. NOVA T
- D. OCPs (Correct Answer)
Explanation: ***OCPs*** - **Combined oral contraceptives (OCPs)** are a common and effective first-line treatment for menorrhagia in reproductive-aged women, particularly when contraception is also desired. - They work by stabilizing the **endometrial lining**, reducing menstrual blood loss and regulating cycles. *NOVA T* - NOVA T is a type of **copper IUD (intrauterine device)**, which is known to potentially *increase* menstrual bleeding and dysmenorrhea, making it unsuitable for menorrhagia. - Its primary function is contraception, not the management of heavy menstrual bleeding. *Cu IUD* - The **copper intrauterine device (Cu IUD)** is generally contraindicated in women with menorrhagia because it can exacerbate heavy menstrual bleeding. - While an effective contraceptive, it does not offer therapeutic benefits for managing heavy periods. *Hysterectomy* - **Hysterectomy** is a surgical procedure for removing the uterus and is considered a definitive treatment for menorrhagia. - However, it is an **invasive procedure** with irreversible loss of fertility, typically reserved for severe cases where conservative treatments have failed or when other uterine pathology is present.
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