[Congenital adrenal hyperplasia salt-wasting form in males during the neonatal period. Can we anticipate to metabolic emergency?].
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 without 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.
Gebara
Enrique
E
Servicio de Neonatología, Clínica Bazterrica. eogebara@yahoo.com
Fernández
Mariel A
MA
Rojas
Enrique
E
Amin
Armando
A
López
María R
MR
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis* / Q000378:metabolism* / Q000628:therapy; D004630:Emergencies; D006801:Humans; D007231:Infant, Newborn; D008297:Male