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Article

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

Clinical endocrinology - 1 Nov 2015

Mooij Christiaan F, Parajes Silvia, Rose Ian T, Taylor Angela E, Bayraktaroglu Taner, Wass John A H, Connell John M C, Ray David W, Arlt Wiebke, Krone Nils

Abstract excerpt

OBJECTIVE: Steroid 11β-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia. Nonclassic or mild 11OHD appears to be a rare condition. Our study assessed the residual CYP11B1 function of detected mutations, adding to the spectrum of mild 11OHD, and illustrates the variability of the clinical presentation of 11OHD. PATIENTS AND METHODS: Five patients presented...

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Identifiers

PMID: 26053152
DOI: 10.1111/cen.12834

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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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