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Article

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants.

Hormones (Athens, Greece) - 1 Mar 2022

Fylaktou I, Smyrnaki P, Sertedaki A, Dracopoulou M, Kanaka-Gantenbein Ch

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11β-hydroxylase (11βOH). CASE PRESENTATION: A 13-year-old girl was referred...

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PMID: 34697763
DOI: 10.1007/s42000-021-00322-1

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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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