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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 a potentially life threatening disorder; neonatal screening with 17-hydroxyprogesterone measurement can diagnose the...

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PMID: 23624029
DOI: 10.1016/j.steroids.2013.04.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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