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(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
21 hydroxylase deficiency
17 alpha hydroxylase deficiency
17, 20 lyase deficiency
11 beta hydroxylase deficiency
Endocrinology