Abstract

GEBARA, Enrique et al. Congenital adrenal hyperplasia salt-wasting form in males during the neonatal period. Arch. argent. pediatr. [online]. 2009, vol.107, n.4, pp.369-373. ISSN 0325-0075.

Congenital adrenal hyperplasia is a group of disorders resulting from the deficiency of one of the five enzymes required for the synthesis of cortisol. The most frequent is the steroid 21-hydroxylase deficiency, accounting for more than 90% of the cases. The capacity of aldosterone synthesis is also decreased in 75% of the affected infants, resulting in salt-wasting type and life-threatening metabolic crisis. Affected males have not overt abnormality of the external genitalia and are detected when they develop a salt-losing crisis. The aim is to describe the devastating clinical presentation of the salt-wasting in two affected boys in the period whitout screening, and the advantages of the screening era in one girl having a simple virilizing form. Careful medical history, earlier clinical suspicion and a screening program would have helped us anticipate the diagnosis and, therefore, prevent salt-wasting crisis.

Keywords : Congenital adrenal hyperplasia; 21 hydroxylase deficiency; Newborn; Males; Screening program.

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