Diagnosis and management of classical congenital adrenal hyperplasia.

doi:10.1016/j.steroids.2013.04.007

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Article

Diagnosis and management of classical congenital adrenal hyperplasia.

Steroids - 1 Aug 2013

Marumudi Eunice, Khadgawat Rajesh, Surana Vineet, Shabir Iram, Joseph Angela, Ammini Ariachery C

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is among the most common genetic disorders. Deficiency of adrenal steroid 21-hydroxylase deficiency due to mutations in the CYP21A2 gene accounts for about 95% cases of CAH. This disorder manifests with androgen excess with or without salt wasting. It also is...

Topics

Adolescent
Adrenal Hyperplasia, Congenital
Adult
Female
Fertility
Fludrocortisone
Genitalia
Humans
Hydrocortisone
Infant, Newborn
Male
Mutation
Neonatal Screening
Pregnancy
Prenatal Diagnosis
Steroid 21-Hydroxylase
Treatment Outcome

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