Congenital adrenal hyperplasia

fetal, neonatal, pubertal and adult repercussions

Abstract

The purpose of this study is to review the clinical manifestations, diagnosis and treatment in each phase of life of Congenital Adrenal Hyperplasia. It is a familial, autosomal recessive disease caused by a hereditary deficiency of any of the enzymes related to cortisol synthesis. More than 90% of HCSR cases occur due to deficiency of the 21-hydroxylase enzyme (21-OH) by mutations in CYP21 gene, leading to a decrease in serum cortisol and aldosterone concentration and an increase in 17-OH progesterone (17-OHP) and androgens. The HSRC for 21-OH deficiency may present two clinical forms: 1 - classical: subdivided into salt-loser and simple virilizing; 2- non-classical 2-virilizing. From clinical suspicion, diagnosis of the classical form is obtained by elevated serum concentrations of 17-OHP and androstenedione and in salt-losing forms, there is hyponatremia, hyperkalemia, and increased plasma renin activity.