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Article

Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review.

Journal of assisted reproduction and genetics - 1 Jan 2000

Sugino Y, Usui T, Okubo K, Nagahama K, Takahashi T, Okuno H, Hatayama H, Ogawa O, Shimatsu A, Nishiyama H

Abstract excerpt

We describe here two infertile male patients who were referred to our hospital with azoospermia at the ages of 33 and 30 years, respectively. Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients. Genotyping revealed that the patients had a homozygous I172N and a heterozygous compound I172N/IVS2-13A/C>G mutation, respectively....

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Source

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Identifiers

PMID: 17033937
DOI: 10.1007/s10815-006-9062-0
PMCID: PMC3455103

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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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