Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

doi:10.1159/000245930

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Article

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).

Hormone research - 1 Jan 2009

Krone Nils, Grötzinger Joachim, Holterhus Paul-Martin, Sippell Wolfgang G, Schwarz Hans-Peter, Riepe Felix G

Abstract excerpt

BACKGROUND: Steroid 11-hydroxylase (CYP11B1) deficiency (11OHD) is the second most common form of congenital adrenal hyperplasia (CAH). Herein, we describe two novel CYP11B1 mutations (g659_660dupTG, p.M92X; g.4817G>A, p.R453Q) found in a patient diagnosed with classic 11OHD, after presenting with borderline elevated 17-hydroxyprogesterone concentrations in CAH newborn screening. METHODS: A novel CYP11B1 variant...

Topics

Adrenal Hyperplasia, Congenital
Animals
Arginine
Base Sequence
COS Cells
Chlorocebus aethiops
DNA Mutational Analysis
Glutamic Acid
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Methionine

Models, Molecular

Mutation, Missense

Pedigree

Polymorphism, Single Nucleotide

Steroid 11-beta-Hydroxylase

Transfection

Source

Open in PubMed

Identifiers

PMID: 19844114
DOI: 10.1159/000245930

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19844114-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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