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Article

Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman.

The Journal of clinical endocrinology and metabolism - 1 May 2005

Taniyama Matsuo, Tanabe Makito, Saito Hiroshi, Ban Yoshio, Nawata Hajime, Yanase Toshihiko

Abstract excerpt

Steroid 17alpha-hydroxylase deficiency is characterized by failed sexual development and mineralocorticoid hypertension. Female patients usually exhibit primary amenorrhea. Some patients with partial deficiency are reported to have menses, yet they have hypertension and hypokalemia. We describe here a normotensive, infertile female patient with menses and minimal defects in secondary sex characteristics. The...

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Identifiers

PMID: 15713706
DOI: 10.1210/jc.2004-2067

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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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