Adrenal Gland Disorders — MCQs
Which of the following is a component of the classic triad used for clinical diagnosis of pheochromocytoma?
Which of the following is best for diagnosis of pheochromocytoma?
What condition is caused by the intake of exogenous steroids?
Most common deficient enzyme in Congenital adrenal hyperplasia:
In which of the following conditions would the cortisol level be highest?
In congenital adrenal hyperplasia, the deficient enzyme is:
All of the following are seen in MEN 2B except which of the following?
A 54-year-old woman appears in your office for a new patient visit. She reports a past medical history of hypertension, which she was told was related to "adrenal gland disease." You recall that Conn syndrome and pheochromocytomas are both conditions affecting the adrenal gland that result in hypertension by different mechanisms. Which areas of the adrenal gland are involved in Conn syndrome and pheochromocytomas, respectively?
13 yr old child visit gynaecology OPD with a complaint of not attaining menarche with karyotype 46XX. On examination, clitoromegaly is seen. Which enzyme is most likely to be deficient in the above condition?
Estimation of which of the following will help in the diagnosis of a five-year-old boy who has precocious puberty along with a blood pressure of 130/80 mm Hg?
Adrenal Gland Disorders Indian Medical PG Practice Questions and MCQs
Question 1: Which of the following is a component of the classic triad used for clinical diagnosis of pheochromocytoma?
- A. Hyperkalemia
- B. Hypertension
- C. Headache (Correct Answer)
- D. Bradycardia
Explanation: ***Headache*** - **Headache** is a key symptom in the classic triad for pheochromocytoma, caused by the **vasoconstrictive effects** of catecholamine surges. - The other two components of the classic triad are **palpitations** and **sweating**. *Hyperkalemia* - **Hyperkalemia** is not a typical manifestation of pheochromocytoma; rather, these tumors produce **catecholamines** that can lead to hyperglycemia. - Mineralocorticoid excess (e.g., in aldosteronism) is more commonly associated with electrolyte imbalances like hyperkalemia or hypokalemia. *Hypertension* - While **hypertension** is a hallmark feature of pheochromocytoma, it is a general sign rather than one of the specific three components of the classic clinical triad used for initial diagnostic suspicion. - The classic triad focuses on the most prominent and specific symptoms that suggest a **catecholamine-secreting tumor**. *Bradycardia* - **Bradycardia** is contrary to the expected cardiovascular effects of pheochromocytoma, which typically causes **tachycardia** (palpitations) due to excessive catecholamine release. - Catecholamines, such as **epinephrine** and **norepinephrine**, increase heart rate and myocardial contractility.
Question 2: Which of the following is best for diagnosis of pheochromocytoma?
- A. 24-hour Urinary Hydroxy indole acetic acid
- B. 24-hour urinary Vanillyl Mandelic acid
- C. 24-hour Urinary Hydroxy tryptamine
- D. 24-hour urinary Fractionated Metanephrine (Correct Answer)
Explanation: ***24-hour urinary Fractionated Metanephrine*** - This test measures the **metabolites of catecholamines** (epinephrine and norepinephrine), which are continuously produced by pheochromocytomas [1]. - As metanephrines are released continuously rather than episodically, their measurement in a 24-hour urine collection provides the **highest sensitivity and specificity** for diagnosing pheochromocytoma. *24-hour Urinary Hydroxy indole acetic acid* - This is a metabolite of **serotonin**, which is relevant to conditions like **carcinoid syndrome**, not pheochromocytoma. - Elevated levels would indicate a serotonin-producing tumor, not a catecholamine-producing tumor. *24-hour urinary Vanillyl Mandelic acid* - While VMA is a metabolite of both epinephrine and norepinephrine, it is a less specific and sensitive marker than fractionated metanephrines for pheochromocytoma. - Its measurement can be affected by various medications and dietary factors, leading to a higher rate of false positives and negatives compared to metanephrines. *24-hour Urinary Hydroxy tryptamine* - This refers to **serotonin**, which is not directly relevant to the diagnosis of pheochromocytoma. - Elevated levels would point towards conditions involving serotonin metabolism, such as carcinoid tumors.
Question 3: What condition is caused by the intake of exogenous steroids?
- A. Addison's disease
- B. Cushing's syndrome (Correct Answer)
- C. Pheochromocytoma
- D. Conn's syndrome
Explanation: ***Cushing's syndrome*** - **Exogenous steroid intake** is the most common cause of Cushing's syndrome, leading to symptoms associated with **excess cortisol** [1]. - This occurs because the steroids mimic the effects of **cortisol**, suppressing the body's natural production and leading to its characteristic signs and symptoms [2]. *Addison's disease* - This condition is characterized by **adrenal insufficiency**, meaning the adrenal glands produce too little **cortisol** and often **aldosterone**. - It is typically caused by autoimmune destruction of the adrenal glands, not by exogenous steroid intake. *Pheochromocytoma* - This is a rare tumor of the **adrenal medulla** that causes the overproduction of **catecholamines** (epinephrine and norepinephrine). - Symptoms include sudden, severe episodes of hypertension, palpitations, and sweating, unrelated to steroid intake. *Conn's syndrome* - Also known as **primary hyperaldosteronism**, this condition involves the overproduction of **aldosterone** by the adrenal glands. - It typically results in hypertension and hypokalemia and is not directly caused by exogenous steroid administration.
Question 4: Most common deficient enzyme in Congenital adrenal hyperplasia:
- A. 21-hydroxylase deficiency (Correct Answer)
- B. 18-hydroxylase deficiency
- C. 3-beta-hydroxysteroid dehydrogenase deficiency
- D. 17-alpha hydroxylase deficiency
Explanation: ***21-hydroxylase deficiency*** - This is by far the **most common cause** of congenital adrenal hyperplasia (CAH), accounting for about 90-95% of all cases. - Deficiency in 21-hydroxylase leads to impaired synthesis of **cortisol** and **aldosterone**, and an accumulation of androgen precursors. *18-hydroxylase deficiency* - This enzyme is crucial for the final step in **aldosterone synthesis**, specifically converting 18-hydroxycorticosterone to aldosterone. - Its deficiency would primarily impact **aldosterone production**, leading to salt wasting, but it is a very rare cause of CAH and does not affect cortisol synthesis directly. *3-beta-hydroxysteroid dehydrogenase deficiency* - This is a less common form of CAH that affects the synthesis of **glucocorticoids, mineralocorticoids, and androgens**. - It results in the accumulation of **dehydroepiandrosterone (DHEA)**, leading to varying degrees of virilization in females and undervirilization in males. *17-alpha hydroxylase deficiency* - This rare form of CAH impairs the production of **cortisol** and **androgens**, but it spares **aldosterone synthesis**. - Patients typically present with **hypertension** and **hypokalemia** due to excess mineralocorticoid activity, along with sexual developmental abnormalities.
Question 5: In which of the following conditions would the cortisol level be highest?
- A. Normal person after receiving dexamethasone
- B. Normal person in the late evening
- C. Addison's disease
- D. Normal person in the early morning (Correct Answer)
Explanation: ***Normal person in the early morning*** - Cortisol secretion follows a **circadian rhythm**, with levels naturally peaking in the early morning (typically between 6-8 AM) to prepare the body for the day's activities. - This **diurnal variation** is a key physiological characteristic of cortisol, regulated by the **hypothalamic-pituitary-adrenal (HPA) axis**. *Normal person after receiving dexamethasone* - **Dexamethasone** is a potent synthetic glucocorticoid that **suppresses ACTH secretion** via negative feedback, leading to a significant **reduction in endogenous cortisol production**. - This is the principle behind the **dexamethasone suppression test**, used to diagnose Cushing's syndrome (failure of suppression). *Normal person in the late evening* - Cortisol levels are typically at their **lowest point** in the late evening (around midnight to early morning hours) as part of the normal **circadian rhythm**. - This nadir reflects the body's decreased need for metabolic and stress response hormones during rest. *Addison's disease* - **Addison's disease** is characterized by **primary adrenal insufficiency**, meaning the adrenal glands are unable to produce sufficient amounts of cortisol. - Patients with Addison's disease have **chronically low cortisol levels** due to glandular damage, often accompanied by high ACTH levels.
Question 6: In congenital adrenal hyperplasia, the deficient enzyme is:
- A. 3-beta hydroxylase deficiency
- B. 17-alpha hydroxylase deficiency
- C. 11-beta hydroxylase deficiency
- D. 21-hydroxylase deficiency (Correct Answer)
Explanation: ***21-hydroxylase deficiency*** - This is the **most common cause** of congenital adrenal hyperplasia (CAH), accounting for about 90-95% of cases. - Deficiency of **21-hydroxylase** leads to impaired synthesis of cortisol and aldosterone, causing an accumulation of androgen precursors. *3-beta hydroxylase deficiency* - This deficiency affects the synthesis of **cortisol**, **aldosterone**, and **androgens**. - It results in **salt wasting** and underdeveloped external genitalia in males (ambiguous genitalia in females). *17-alpha hydroxylase deficiency* - This enzyme deficiency impairs the production of **cortisol** and **sex steroids**, but not aldosterone, leading to **hypertension** and **hypokalemia**. - It can cause **ambiguous genitalia** in males and lack of puberty in females. *11-beta hydroxylase deficiency* - This deficiency primarily affects the conversion of 11-deoxycortisol to cortisol and 11-deoxycorticosterone to aldosterone, leading to an accumulation of **11-deoxycorticosterone** (a mineralocorticoid). - This results in **hypertension** and **hypokalemia** with virilization in females due to increased androgen production.
Question 7: All of the following are seen in MEN 2B except which of the following?
- A. Neuromas
- B. Pheochromocytoma
- C. Medullary carcinoma thyroid
- D. Hyperparathyroidism (Correct Answer)
Explanation: ***Hyperparathyroidism*** - **Hyperparathyroidism** is a characteristic feature of **MEN 1** and **MEN 2A**, but it is typically **absent in MEN 2B**. - MEN 2B is primarily associated with **RET gene mutations** that do not commonly lead to parathyroid gland hyperplasia or adenomas. *Neuromas* - **Mucosal neuromas**, particularly in the lips, tongue, and gastrointestinal tract, are a **hallmark feature of MEN 2B**. - These benign tumors are a key diagnostic clue for this syndrome. *Medullary carcinoma thyroid* - **Medullary thyroid carcinoma (MTC)** is a **nearly universal and aggressive component of MEN 2B**, arising from parafollicular C-cells. - It is often the presenting feature and requires early detection and thyroidectomy due to its high metastatic potential. *Pheochromocytoma* - **Pheochromocytoma**, a tumor of the adrenal medulla, occurs in approximately 50-70% of individuals with **MEN 2B**. - It can cause severe hypertension and is an important component of the syndrome that needs to be screened for due to its potential for life-threatening hypertensive crises.
Question 8: A 54-year-old woman appears in your office for a new patient visit. She reports a past medical history of hypertension, which she was told was related to "adrenal gland disease." You recall that Conn syndrome and pheochromocytomas are both conditions affecting the adrenal gland that result in hypertension by different mechanisms. Which areas of the adrenal gland are involved in Conn syndrome and pheochromocytomas, respectively?
- A. Medulla; zona reticularis
- B. Zona fasciculata; zona reticularis
- C. Zona glomerulosa; medulla (Correct Answer)
- D. Zona glomerulosa; zona fasciculata
- E. Zona fasciculata; medulla
Explanation: ***Zona glomerulosa; medulla*** - **Conn syndrome** (primary hyperaldosteronism) is caused by excessive **aldosterone** production, which occurs in the **zona glomerulosa** of the adrenal cortex [1]. - **Pheochromocytoma** is a tumor of the **adrenal medulla** that produces excessive **catecholamines** (epinephrine and norepinephrine) [2]. *Medulla; zona reticularis* - The **adrenal medulla** produces catecholamines [2], associated with pheochromocytoma, but the **zona reticularis** produces androgens [1], not implicated in Conn syndrome. - Conn syndrome involves the **zona glomerulosa**, not the zona reticularis. *Zona fasciculata; zona reticularis* - The **zona fasciculata** produces glucocorticoids (e.g., cortisol) [1], and the **zona reticularis** produces androgens. Neither is primarily associated with Conn syndrome or pheochromocytoma. - Conn syndrome is linked to the **zona glomerulosa**, and pheochromocytoma to the **medulla**. *Zona glomerulosa; zona fasciculata* - While the **zona glomerulosa** is correctly associated with Conn syndrome (aldosterone production) [1], the **zona fasciculata** produces glucocorticoids, not catecholamines, and is therefore not involved in pheochromocytoma. - Pheochromocytomas originate in the **adrenal medulla**. *Zona fasciculata; medulla* - The **zona fasciculata** produces glucocorticoids, not aldosterone, so it is not associated with Conn syndrome. - The **adrenal medulla** is correctly associated with pheochromocytoma, but this option incorrectly links Conn syndrome to the zona fasciculata.
Question 9: 13 yr old child visit gynaecology OPD with a complaint of not attaining menarche with karyotype 46XX. On examination, clitoromegaly is seen. Which enzyme is most likely to be deficient in the above condition?
- A. 21 alpha-hydroxylase (Correct Answer)
- B. 11 beta-hydroxylase
- C. 17 alpha-hydroxylase
- D. 3 beta-hydroxysteroid dehydrogenase
Explanation: ***21 alpha-hydroxylase*** - A deficiency in **21-alpha-hydroxylase** is the most common cause of **congenital adrenal hyperplasia (CAH)**, leading to **excess androgen production**. [1] - In a 46 XX individual, this excess androgen causes **virilization**, presenting as **clitoromegaly** and **primary amenorrhea** (lack of menarche) due to the suppression of normal ovarian function and early epiphyseal fusion. *11 beta-hydroxylase* - Deficiency of **11-beta-hydroxylase** also leads to **CAH** and androgen excess, causing **virilization**. - However, it is characterized by the accumulation of **11-deoxycorticosterone (DOC)**, which has mineralocorticoid activity, leading to **hypertension**, which is not mentioned in the present case. *17 alpha-hydroxylase* - A deficiency in **17-alpha-hydroxylase** impairs the synthesis of both **androgens** and **estrogens**. - This typically results in **female external genitalia** in 46 XY individuals and **primary amenorrhea** with **lack of secondary sexual characteristics** in 46 XX individuals, often accompanied by **hypertension** due to elevated **DOC**, which contradicts the clitoromegaly seen. *3 beta-hydroxysteroid dehydrogenase* - Deficiency of **3-beta-hydroxysteroid dehydrogenase** impairs the synthesis of all major adrenal steroids (mineralocorticoids, glucocorticoids, and androgens). - In 46 XX individuals, this can cause mild **virilization** due to the accumulation of **DHEA**, but it is also associated with **salt-wasting crises** and **adrenal insufficiency**, which are not indicated here.
Question 10: Estimation of which of the following will help in the diagnosis of a five-year-old boy who has precocious puberty along with a blood pressure of 130/80 mm Hg?
- A. Aldosterone
- B. DOCA
- C. 11-Deoxycortisol (Correct Answer)
- D. 17-Hydroxyprogesterone
Explanation: ***11-Deoxycortisol*** - The combination of **precocious puberty** and **hypertension** in a 5-year-old boy strongly suggests **11β-hydroxylase deficiency** CAH, where 11-deoxycortisol is the most specific diagnostic marker. - In 11β-hydroxylase deficiency, **11-deoxycortisol accumulates** due to impaired conversion to cortisol, making it the most diagnostically accurate test for this specific enzyme deficiency that causes both virilization and hypertension. *17-Hydroxyprogesterone* - While this is the standard **general screening test** for CAH, it may be **normal or only mildly elevated** in 11β-hydroxylase deficiency [1]. - It's more useful for diagnosing **21α-hydroxylase deficiency** (the most common CAH) but less specific for the 11β-hydroxylase deficiency suggested by this clinical presentation [1]. *Aldosterone* - **Aldosterone levels** are typically **suppressed** in 11β-hydroxylase deficiency CAH due to negative feedback from elevated mineralocorticoid precursors like **DOC**. - Elevated aldosterone would suggest **primary hyperaldosteronism**, which rarely causes precocious puberty in children. *DOCA* - **DOCA (11-deoxycorticosterone)** is indeed elevated in 11β-hydroxylase deficiency and directly causes the hypertension through its **mineralocorticoid activity** [1]. - However, **direct measurement of DOCA** is less commonly available and not routinely used as a first-line diagnostic test compared to 11-deoxycortisol.
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