Adrenal Disorders — MCQs
VMA is elevated in which of the following condition?
Which of the following statements about 21-Hydroxylase deficiency is false?
Congenital Adrenal Hyperplasia is due to deficiency of:
Increased aldosterone and ADH secretion following major trauma results in all the following except?
An XX baby presenting with male genitalia (penis and scrotum) is likely due to which of the following conditions?
A 7-day-old newborn presents with vomiting and dehydration. The clinical examination is normal except for hyperpigmentation of the nipple. Electrolyte levels show Na: 120 meq/L and K: 9 meq/L. What is the most likely diagnosis?
A 3-month-old male child with normal genitalia presents to the emergency department with severe dehydration, hyperkalemia, and hyponatremia. Measurement of blood levels of which of the following will be helpful?
17-OH progesterone level in congenital adrenal hyperplasia in 1 year old child (in ng/dL)-
A 1-month old baby present with frequent vomiting and failure to thrive. There are features of moderate dehydration. Blood sodium in 122 mEq/l and potassium is 6.1 mEq/l. The most likely diagnosis is?
Congenital adrenal hyperplasia most commonly presents as
Adrenal Disorders Indian Medical PG Practice Questions and MCQs
Question 1: VMA is elevated in which of the following condition?
- A. Tuberous sclerosis
- B. Addison disease
- C. Pheochromocytoma (Correct Answer)
- D. Conn Syndrome
Explanation: Pheochromocytoma - Pheochromocytoma is a tumor of the adrenal medulla that secretes excessive amounts of catecholamines (epinephrine and norepinephrine). - Vanillylmandelic acid (VMA) is a breakdown product of these catecholamines [1], so its levels are elevated in the urine of patients with pheochromocytoma. Tuberous sclerosis - Tuberous sclerosis is a genetic disorder characterized by the growth of numerous non-cancerous tumors in various organs. - While it can be associated with renal angiomyolipomas or brain lesions, it does not directly cause elevated VMA levels. Addison disease - Addison disease is characterized by adrenal insufficiency [2], meaning the adrenal glands produce insufficient amounts of hormones like cortisol and aldosterone. - This condition is not associated with the overproduction of catecholamines or elevated VMA. Conn Syndrome - Conn syndrome (primary hyperaldosteronism) is due to an overproduction of aldosterone by the adrenal glands, often caused by an adrenal adenoma [3]. - Aldosterone is a mineralocorticoid, and its overproduction does not lead to increased catecholamine metabolism or elevated VMA levels.
Question 2: Which of the following statements about 21-Hydroxylase deficiency is false?
- A. It leads to female pseudohermaphroditism.
- B. It is the most common cause of congenital adrenal hyperplasia.
- C. It is inherited in an autosomal recessive manner.
- D. It leads to male pseudohermaphroditism. (Correct Answer)
Explanation: ***It leads to male pseudohermaphroditism.*** - **21-Hydroxylase deficiency** does not lead to male pseudohermaphroditism; instead, it causes **virilization in females** (female pseudohermaphroditism) due to increased androgen production. - Males with 21-hydroxylase deficiency typically present with **salt-wasting crises** or **premature pubarche**, but their internal and external genitalia are normal. *It is the most common cause of congenital adrenal hyperplasia.* - This statement is **true**. **21-hydroxylase deficiency** accounts for approximately 90-95% of all cases of congenital adrenal hyperplasia (CAH) [1]. - Its prevalence and significant role in cortisol and aldosterone synthesis pathways make it the predominant form of the disorder [1]. *It is inherited in an autosomal recessive manner.* - This statement is **true**. 21-hydroxylase deficiency is caused by mutations in the **CYP21A2 gene**, which is inherited in an **autosomal recessive pattern**. - Both parents must be carriers for a child to be affected, with each child having a 25% chance of inheriting the disorder. *It leads to female pseudohermaphroditism.* - This statement is **true**. In affected females, the deficiency of 21-hydroxylase shunts steroid precursors towards the **androgen pathway**, leading to excess adrenal androgens. - This excess androgen exposure *in utero* causes **virilization** of external genitalia, resulting in varying degrees of **ambiguous genitalia** (female pseudohermaphroditism).
Question 3: Congenital Adrenal Hyperplasia is due to deficiency of:
- A. 17 alpha hydroxylase
- B. 21-hydroxylase (Correct Answer)
- C. 17 beta reductase
- D. 5 alpha reductase
Explanation: ***21-hydroxylase*** - Deficiency of **21-hydroxylase** is the most common cause, accounting for about 90-95% of all cases of **Congenital Adrenal Hyperplasia (CAH)**. - This enzyme is crucial for the synthesis of both **cortisol** and **aldosterone**, leading to their deficiency and an accumulation of androgen precursors. *17 alpha hydroxylase* - Deficiency of **17α-hydroxylase** leads to impaired production of **androgens and cortisol**, but increased production of **mineralocorticoids**, which is a distinct clinical picture from classic CAH caused by 21-hydroxylase deficiency. - This form of CAH typically presents with **gonadal dysfunction** and hypertension due to excess mineralocorticoids. *17 beta reductase* - **17β-hydroxysteroid dehydrogenase (17β-HSD)** deficiency affects the conversion of less active steroid precursors to more active forms, primarily involved in sex steroid synthesis. - This typically leads to disorders of sex development, not the classic adrenal insufficiency and androgen excess seen in CAH. *5 alpha reductase* - Deficiency of **5α-reductase** impairs the conversion of **testosterone to dihydrotestosterone (DHT)**, which is essential for external male genitalia virilization. - This results in **ambiguous or female-appearing external genitalia** in chromosomally male individuals (46,XY DSD), not a classic form of CAH.
Question 4: Increased aldosterone and ADH secretion following major trauma results in all the following except?
- A. Increased osmolarity of urine
- B. Increased water excretion (Correct Answer)
- C. Increased K+ excretion in urine
- D. Decreased Na+ excretion in urine
Explanation: ***Increased water excretion*** - **ADH (antidiuretic hormone)** increases water reabsorption in the collecting ducts, leading to a *decrease* in water excretion, not an increase. - Increased aldosterone and ADH would promote fluid retention to maintain blood volume following trauma, thus reducing water loss via urine. *Decreased Na+ excretion in urine* - **Aldosterone** acts on the renal tubules to increase **sodium reabsorption** and potassium excretion. - This response is crucial in **conserving sodium** and thereby maintaining extracellular fluid volume after trauma. *Increased K+ excretion in urine* - **Aldosterone** directly stimulates **potassium secretion** into the urine in the principal cells of the collecting ducts. - This is a normal physiological consequence of increased aldosterone levels. *Increased osmolarity of urine* - **ADH** increases the permeability of the collecting ducts to water, leading to **more water reabsorption** back into the bloodstream. - This removal of water from the urine concentrates the solutes, resulting in a **more concentrated (higher osmolarity)** urine.
Question 5: An XX baby presenting with male genitalia (penis and scrotum) is likely due to which of the following conditions?
- A. Turner syndrome
- B. None of the options
- C. Klinefelter syndrome
- D. High level of testosterone in maternal blood (Correct Answer)
Explanation: ***High level of testosterone in maternal blood*** - An **XX baby** (genetically female) presenting with **fully masculinized external genitalia** (penis and scrotum) indicates significant **androgen exposure** during the critical period of sexual differentiation (8-12 weeks of gestation). - While the most common cause is **congenital adrenal hyperplasia (CAH)** due to fetal androgen excess, **maternal sources of androgens** can also cause complete masculinization. - Maternal causes include **virilizing tumors** (e.g., luteoma of pregnancy, Krukenberg tumor, arrhenoblastoma), **exogenous androgen administration**, or **maternal CAH**. - High sustained maternal testosterone crosses the placenta and causes **virilization of female fetus**, which can range from clitoromegaly to complete male phenotype. - This is the **only medically correct option** among the choices given, though CAH (not listed) would be the most common cause overall. *Klinefelter syndrome* - **47, XXY karyotype** - genetically male due to presence of Y chromosome with SRY gene. - Presents as phenotypic male, not relevant to an **XX individual**. - Features include hypogonadism, infertility, tall stature, and gynecomastia. *Turner syndrome* - **45, X karyotype** - monosomy X, genetically and phenotypically female. - Presents with **female external genitalia**, streak gonads, short stature, webbed neck. - Cannot explain masculinized genitalia in any scenario. *None of the options* - This is incorrect because **high level of testosterone in maternal blood** is a documented cause of XX virilization with male phenotype, though less common than fetal CAH.
Question 6: A 7-day-old newborn presents with vomiting and dehydration. The clinical examination is normal except for hyperpigmentation of the nipple. Electrolyte levels show Na: 120 meq/L and K: 9 meq/L. What is the most likely diagnosis?
- A. Primary hypothyroidism
- B. Panhypopituitarism
- C. Pyloric stenosis
- D. Congenital adrenal hyperplasia (Correct Answer)
Explanation: ***Congenital adrenal hyperplasia*** - In **congenital adrenal hyperplasia (CAH)**, particularly 21-hydroxylase deficiency, mineralocorticoid deficiency leads to **salt wasting** with **hyponatremia** and **hyperkalemia**, as seen in this newborn. - **Hyperpigmentation** occurs due to increased ACTH, which also stimulates melanocytes, as a result of cortisol deficiency. *Primary hypothyroidism* - While newborns with primary hypothyroidism can present with feeding difficulties and lethargy, **electrolyte abnormalities** like severe hyponatremia and hyperkalemia are not typical features. - **Hyperpigmentation** is also not a common finding in primary hypothyroidism. *Panhypopituitarism* - **Panhypopituitarism** in a newborn can cause hypoglycemia and other hormone deficiencies, but generally does not present with isolated and severe **salt-wasting crisis** with hyperkalemia, nor isolated nipple hyperpigmentation in this manner. - Multiple trophic hormone deficiencies would be expected, rather than primarily adrenal crisis symptoms. *Pyloric stenosis* - **Pyloric stenosis** typically presents with **non-bilious projectile vomiting** starting around 3-6 weeks of age, not commonly at 7 days, and leads to **hypochloremic alkalosis** with hypokalemia, not hyperkalemia and hyponatremia. - **Hyperpigmentation** is not associated with pyloric stenosis.
Question 7: A 3-month-old male child with normal genitalia presents to the emergency department with severe dehydration, hyperkalemia, and hyponatremia. Measurement of blood levels of which of the following will be helpful?
- A. Renin
- B. Aldosterone (Correct Answer)
- C. Cortisol
- D. 17-hydroxy progesterone
Explanation: ***Aldosterone*** - The combination of **severe dehydration, hyperkalemia, and hyponatremia** in an infant with normal genitalia is highly suggestive of **salt-wasting congenital adrenal hyperplasia (CAH)**. - In salt-wasting CAH, there is a deficiency in **aldosterone production**, leading to impaired sodium reabsorption and potassium excretion in the kidneys. - Measuring **aldosterone levels** directly assesses the **functional mineralocorticoid deficit** responsible for the life-threatening electrolyte imbalance and guides immediate replacement therapy. - Low aldosterone confirms the salt-wasting state and helps determine the appropriate dose of **fludrocortisone** (mineralocorticoid replacement). *Renin* - **Renin** is secreted by the kidneys in response to low blood pressure or low sodium levels, stimulating the renin-angiotensin-aldosterone system. - Renin levels would be **markedly elevated** in salt-wasting CAH due to hypovolemia and aldosterone deficiency. - While helpful, it provides **indirect information** about aldosterone deficiency rather than measuring the hormone itself. *Cortisol* - **Cortisol deficiency** is a feature of most forms of CAH, leading to stress intolerance and hypoglycemia. - However, the **specific constellation of severe electrolyte abnormalities** (hyperkalemia, hyponatremia) points directly to mineralocorticoid deficiency. - Cortisol measurement is important but doesn't directly address the salt-wasting crisis. *17-hydroxyprogesterone* - Elevated **17-hydroxyprogesterone (17-OHP)** is the **hallmark diagnostic test** for **21-hydroxylase deficiency**, the most common cause of CAH. - While 17-OHP is essential for **confirming the diagnosis** and type of CAH, the question asks what measurement would be helpful for the **immediate clinical presentation** of salt-wasting. - **Aldosterone** more directly assesses the functional deficit causing the acute crisis and guides mineralocorticoid replacement therapy.
Question 8: 17-OH progesterone level in congenital adrenal hyperplasia in 1 year old child (in ng/dL)-
- A. <150
- B. 150-300
- C. >600 (Correct Answer)
- D. 300-600
Explanation: ***>600 ng/dL*** - In **classic congenital adrenal hyperplasia (CAH)** due to **21-hydroxylase deficiency**, a 17-OH progesterone level greater than 600 ng/dL is highly indicative, especially in a 1-year-old. - This significantly elevated level reflects the **blocked conversion** of 17-OH progesterone to 11-deoxycortisol in the adrenal steroid synthesis pathway. *<150 ng/dL* - This level is considered **normal** for 17-OH progesterone in a 1-year-old child and would rule out classic CAH. - Normal concentrations indicate an **intact 21-hydroxylase enzyme** pathway, allowing for proper cortisol synthesis. *150-300 ng/dL* - While not normal, this range might suggest **non-classic or attenuated CAH**, where the enzyme deficiency is partial, and the elevation is less pronounced than in classic forms. - For classic CAH in an infant or young child, a significantly higher elevation would be expected. *300-600 ng/dL* - This range is also **suggestive of CAH**, but in most cases of classic 21-hydroxylase deficiency in infancy, the 17-OH progesterone levels are considerably higher. - Levels within this range might be seen in less severe forms of the disorder or under specific testing conditions, but **>600 ng/dL** is more characteristic for classic CAH in this age group.
Question 9: A 1-month old baby present with frequent vomiting and failure to thrive. There are features of moderate dehydration. Blood sodium in 122 mEq/l and potassium is 6.1 mEq/l. The most likely diagnosis is?
- A. 11β-hydroxylase deficiency
- B. 21-hydroxylase deficiency (Correct Answer)
- C. Gitelman syndrome
- D. Bartter syndrome
Explanation: ***21-hydroxylase deficiency*** - This condition presents in infancy with **salt-wasting adrenal crisis** due to impaired cortisol and aldosterone synthesis, leading to **hyponatremia**, **hyperkalemia**, **dehydration**, and **vomiting**. - The deficiency in 21-hydroxylase blocks the synthesis of **aldosterone**, causing sodium loss and potassium retention, consistent with the electrolyte abnormalities. *11β-hydroxylase deficiency* - This deficiency causes an accumulation of **11-deoxycorticosterone (DOC)**, which has mineralocorticoid activity, leading to **hypertension** and **hypokalemia**, rather than hyponatremia and hyperkalemia. - While it can cause virilization, the electrolyte imbalance is distinctly different from the case presented. *Gitelman syndrome* - This is a **renal tubulopathy** characterized by reabsorptive defects in the distal convoluted tubule, leading to **hypokalemia**, **metabolic alkalosis**, **hypomagnesemia**, and **hypocalciuria**. - It would not typically present with severe hyponatremia or hyperkalemia in a neonate with salt wasting. *Bartter syndrome* - This is a **renal tubulopathy** affecting the thick ascending limb of the loop of Henle, resulting in significant salt loss, **hypokalemia**, **metabolic alkalosis**, and **hypercalciuria**. - Like Gitelman syndrome, it is associated with hypokalemia, which contradicts the hyperkalemia seen in the patient.
Question 10: Congenital adrenal hyperplasia most commonly presents as
- A. 46,XY DSD
- B. Ovotesticular DSD
- C. 46,XX DSD with virilization (Correct Answer)
- D. 46,XY DSD with undervirilization
Explanation: ***46,XX DSD with virilization*** (formerly female pseudohermaphroditism) - This is the **most common presentation** of congenital adrenal hyperplasia (CAH), particularly due to **21-hydroxylase deficiency**, which accounts for >90% of CAH cases. - Affects genetically female (46,XX) individuals with excess **androgens** produced by hyperplastic adrenal glands leading to **virilization** of external genitalia. - Clinical features include **clitoromegaly, labioscrotal fusion**, and varying degrees of masculinization, while **internal female organs (uterus, ovaries, fallopian tubes) remain normal**. - This is the classic presentation that brings CAH to clinical attention in newborn screening programs. *46,XY DSD* (formerly 46,XY intersex) - This terminology refers to conditions where genetically male individuals (46,XY) have atypical genital development. - Common causes include **androgen insensitivity syndrome** or disorders of testosterone synthesis (5α-reductase deficiency, 17β-hydroxysteroid dehydrogenase deficiency). - CAH in 46,XY individuals typically presents with **isosexual precocious pseudopuberty** (early virilization) in simple virilizing forms or **salt-wasting adrenal crisis** in severe forms, not undervirilization. *Ovotesticular DSD* (formerly true hermaphroditism) - Very rare condition where an individual has **both ovarian and testicular tissue**, either as separate gonads or combined as ovotestes. - Often involves complex chromosomal patterns including **46,XX/46,XY mosaicism** or 46,XX with SRY translocation. - Not related to CAH pathophysiology, which involves enzymatic defects in steroidogenesis. *46,XY DSD with undervirilization* (formerly male pseudohermaphroditism) - Occurs when 46,XY individuals have **undervirilized or ambiguous external genitalia** due to impaired androgen synthesis or action. - Causes include disorders of testicular development, androgen biosynthesis defects, or **androgen insensitivity**. - While CAH can affect males, it causes **excess androgens** leading to precocious puberty, not undervirilization.
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