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Article

Novel P450c17 mutation H373D causing combined 17alpha-hydroxylase/17,20-lyase deficiency.

The Journal of clinical endocrinology and metabolism - 1 Aug 2009

Sahakitrungruang Taninee, Tee Meng Kian, Speiser Phyllis W, Miller Walter L

Abstract excerpt

CONTEXT: Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia presenting with hypertension and sexual infantilism. This disorder is caused by defects in P450c17, encoded by the CYP17A1 gene. OBJECTIVE: We describe a 14-yr-old female with clinical and hormonal features of 17alpha-hydroxylase/17,20-lyase deficiency and identify and characterize the...

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Identifiers

PMID: 19470621
DOI: 10.1210/jc.2009-0645

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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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