Progress of diagnosis and clinical management of congenital adrenal hyperplasia

Abstract

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders.Clinical manifestations can be hermaphroditism, pseudo-precocious puberty or acute infant adrenal crisis.The wide range of CAH symptom spectrums may lead to miss or misdiagnosis in those who had atypical clinical features.The common forms of CAH are caused by deficiency in 21-hydroxylase enzymes, 11β-hydroxylase, 3β-steroid dehydrogenase, 17α-hydroxylase and so on, while the most common form of CAH is 21-Hydroxylase deficiency (>90%). The basic principal clinical management of CAH is lifelong therapy using corticosteroids.This paper review and summarize the recent progress on the diagnosis, principles of treatment and long-term prognosis of CAH. Key words: Congenital adrenal hyperplasia; Progress; Prenatal diagnosis; Prenatal treatment; Final height; Fertility counseling