Congenital adrenal Hyperplasia

The Correct option is Answer: b



Enzymatic defects in the steroidogenic pathway produce a syndrome known as congenital adrenal hyperplasia. This syndrome presents predominantly in the neonatal period with sexual ambiguity. These enzymatic defects result in a lowered cortisol secretion. The specific enzyme defects present determine the clinical form of the syndromes. These include a 21-hydroxylase deficiency, an 11b-hydroxylase deficiency, and a 17-hydroxylase-deficiency. The 21-hydroxylase deficiency and the 11b-hydroxylase deficiency result in excess androgen production in utero and result in masculinization with ambiguous genitalia in the female newborn.

Masculinizing effects in the male may not be detected until precocious puberty becomes obvious. About 40% of patients with 21-hydroxylase deficiency, the most common form, have salt-wasting or sodium loss by urine. Hypovolemic shock can result. Cardiomyopathy, respiratory failure, thrombocytopenia and pulmonary emboli are not associated with this syndrome.

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