Rare type of congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic disease due to glucocorticoid biosynthesis enzyme deficiency, in addition to the common types such as 21-hydroxylase, 11β-hydroxylase deficiency, also include rare types such as 3β-hydroxysteroid dehydrogenase deficiency, 17α-hydroxylase deficiency and congenital lipoid adrenal hyperplasia (CLAH). These rare types of CAH have multiple clinical manifestations, which are easily missed or misdiagnosed.This article focus on molecular genetics, pathophysiology, clinical manifestations and treatment principles of above 3 rare types of CAH. Key words: Congenital adrenal hyperplasia; 3β-hydroxysteroid dehydrogenase deficiency; 17α-hydroxylase deficiency; Congenital lipoid adrenal hyperplasia