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Article

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Endocrine - 1 Jan 2017

Bulsari Krupali, Falhammar Henrik

Abstract excerpt

Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase (CYP11B1) enzyme and the resultant defects in adrenal steroidogenesis. The most common clinical features of 11 beta-hydroxylase deficiency are ambiguous genitalia, accelerated skeletal maturation and resultant short stature, peripheral...

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Identifiers

PMID: 27928728
DOI: 10.1007/s12020-016-1189-x

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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