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Congenital Adrenal Hyperplasia (CAH)

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Congenital Adrenal Hyperplasia (CAH) is a family of autosomal recessive disorders caused by impairment of biosynthesis of cortisol, aldosterone, and androgens. More than 85-90% of CAH is due to 21-hydroxylase deficiency. This is due to the defect in 2 genes-CYP21P and CYP21. 90% of the mutated forms causing 21-hydroxylase deficiency and they all recombination between CYP21 and CYP21P. Clinically they all are divided into two forms deficiency are described- the classical form, which is subdivided into simple virilising form and salt-wasting form and non-classical form. Treatment includes the glut corticoid treatment with mineral corticoid or without mineralocorticoid and salt replacement. This review will focus on the basic etiology, epidemiology, pathogenesis, clinical manifestations, laboratory findings, treatment and prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Introduction
Congenital Adrenal Hyperplasia (CAH), a group of autosomal recessive disorders characterized by enzyme defects in the pathways of steroid biosynthesis involved in the formation of cortisol, aldosterone and androgens. 21-Hydroxylase (21-OH) is the most common of the enzymatic deficicient being found in 94% of cases, which is formed due to mutation of 21-hydroxylase gene CYP21A2. Categorizations lead to two forms severe form or …show more content…

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