Abstract

HAYES DORADO, Juan Pablo; EID DE POMMIER, Martha  and  MONTERO JUSTINIANO, Walter. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency. Rev. bol. ped. [online]. 2005, vol.44, n.2, pp.93-96. ISSN 1024-0675.

The 21 e deficiency is the most frequent forrn of congenital adrenal hyperplasia because it means the 95% of the cases. The general incidence of the clasic form is nearly 1/15.000 newborn and implicates the existence of an fetal hyperandrogenism that influences the appearance of a variable grade of virilization of the external genitalia in the wornan. We describe two newborn attended at the Hospital Santa Cruz of the Caja Petrolera de Salud by presenting arnbiguous genitalia. Both of them were diagnosed congenital adrenal hyperplasia due to 21 hydroxylase deficiency, clasic and virilizing. The treatment was hydrocortisone. The ambiguous genitalia must consider as an medical urgency and congenital adrenal hyperplasia must be rule out because this disorder requires an inmediately treatment.

Keywords : congenital adrenal hyperplasia; 21 hydroxylase; genitalia.

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