Medical MCQ-A 3-week-female infant is brought for ambiguous genitalia and hyperpigmentation of skin. She has hyponatremia and hyperkalemia. Which one of the following is the most likely diagnosis?

A 3-week-female infant is brought for ambiguous genitalia and hyperpigmentation of skin. She has hyponatremia and hyperkalemia. Which one of the following is the most likely diagnosis?

21 hydroxylase deficiency

17 alpha hydroxylase deficiency

17, 20 lyase deficiency

11 beta hydroxylase deficiency

Question Category:

Pediatrics

Correct Answer:

21 hydroxylase deficiency

Description:

a. 21 hydroxylase deficiency(Ref: Nelson's 20/e p 2227-2729, Ghai 8/e p 525)The given clinical scenario of ambiguous genitalia, hyperpigmentation and electrolyte disturbances suggest a diagnosis of CAH due to 21 hydroxylase deficiency.Features Seen in Adrenal Enzyme Deficiency17-a-hydroxylase11-b hydroxylase21 hydroxylase and 3b-HSDSalt retention and hypertensionFeminization of maleSalt retention and hypertensionVirilization of femalePrecocious puberty in maleSalt losingVirilization of femalePrecocious puberty in male

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