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Article

Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.

The Journal of clinical endocrinology and metabolism - 1 Feb 2002

Di Cerbo Alfredo, Biason-Lauber Anna, Savino Maria, Piemontese Maria Rosaria, Di Giorgio Anna, Perona Marco, Savoia Anna

Abstract excerpt

Seventeen alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia not linked to human leukocyte antigen and characterized by the coexistence of hypertension caused by the hyperproduction of mineralocorticoid precursors and sexual abnormalities, such as male pseudohermaphroditism and sexual infantilism in female, due to impaired production of sex hormones....

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Identifiers

PMID: 11836339
DOI: 10.1210/jcem.87.2.8271

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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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Combined 17alpha-Hydroxylase/17,20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene.PMID 11836339Read ↗

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