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Article

Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors.

American journal of medical genetics - 1 Mar 2002

Canto Patricia, Söderlund Daniela, Ramón Guillermo, Nishimura Elisa, Méndez Juan Pablo

Abstract excerpt

Inactivating mutations of the luteinizing hormone receptor (LHR) gene in males induce Leydig cell agenesis or hypoplasia, while activating mutations cause testotoxicosis. Recently, it was demonstrated that a somatic heterozygous activating mutation of the LHR gene (Asp578His), limited to the tumor, was the cause of Leydig cell adenomas in three unrelated patients. We describe the molecular study of two unrelated...

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PMID: 11857565
DOI: 10.1002/ajmg.10218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutational analysis of the luteinizing hormone receptor gene in two individuals with Leydig cell tumors.PMID 11857565Read ↗

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