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Article

Primary amenorrhea in two sisters: description of a Mexican family with 17α hydroxylase-17 lyase deficiency caused by arginine - stop mutation.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Sept 2012

Escamilla-Márquez Marco Antonio, Garduño-Garcia José de Jesús, Ordóñez-Sanchez Maria Luisa, Reza-Albarrán Alfredo, Tusie-Luna María Teresa, Gómez Pérez Francisco Javier, Aguilar-Salinas Carlos Alberto

Abstract excerpt

A rare cause of congental adrenal hyperplasia is 17α-hydroxylase deficiency. It results in sexual infantilism, primary amenorrhea in females, pseudohermaphroditism in males, hypertension, and hypokalemia. We studied two female siblings from a rural community in Mexico. The cause of consultation was primary amenorrhea. The proband had low levels of estrogen, progesterone and cortisol. Deoxycorticosterone and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 22309630
DOI: 10.3109/09513590.2011.652718

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CGA

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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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