HIPERPLASIA ADRENAL CONGENITA

Abstract

Congenital adrenal hyperplasia in an autosomal recessive disease with a frequency in our medium of 1/14.916. Its most important form, the 21-hydroxylase deficit, should be suspected in three clinic situations: The female newborn with ambiguous genitals, the neonate with acute suprarenal insufficiency and the young boy with progressive virilitation. The precocious diagnosis, as a part of a neonatal screening programme is based on the determination of 17-hydroxyprogesterone in paper filter and avoids the development of serious physical and psycho-social situations. Treatment with gluco and mineralocorticoids replaces the insufficient adrenal production of cortisol and, if necessary, aldosterone, leaving out the excessive androgen secretion and allowing a normal growth, development and fertility. In this research, characteristics of the disease are summarized and the data obtained through the 'precocious detection programme' by the Comunidad Autonoma of Madrid are showed.