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) 21 hydroxylase deficiency, (B) 17 alpha hydroxylase deficiency, (C) 17, 20 lyase deficiency, (D) 11 beta hydroxylase deficiency
Answer is A. 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