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Article

Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.

European journal of endocrinology - 1 Mar 2020

Kallali Wafa, Gray Ewan, Mehdi Muhammad Zain, Lindsay Robert, Metherell Louise A, Buonocore Federica, Suntharalingham Jenifer P, Achermann John C, Donaldson Malcolm

Abstract excerpt

OBJECTIVE: CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array. FAMILY STUDY: The youngest of three brothers from a non-consanguineous Scottish family presented with hyperpigmentation at 3.7 years. Investigation showed...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31917682
DOI: 10.1530/EJE-19-0696
PMCID: PMC7087497

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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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