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Article

17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.

Journal of pediatric and adolescent gynecology - 1 Oct 2012

Oh Y K, Ryoo U, Kim D, Cho S Y, Jin D K, Yoon B K, Lee D Y, Choi D

Abstract excerpt

BACKGROUND: 17α-hydroxlyase/17, 20-lyase deficiency (17OHD) is a rare phenotype of congenital adrenal hyperplasia that can cause primary amenorrhea. CASE: Three phenotypically female siblings visited the adolescent gynecologic clinic complaining of primary amenorrhea and absence of secondary sexual developments. All had constant high blood pressure and showed a hypergonadotropic hypogonadal state with high...

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Source

Identifiers

PMID: 22841373
DOI: 10.1016/j.jpag.2012.05.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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