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Article

Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Sept 2022

Alla Achwak, Ongoth Farel Elilie Mawa, Tahiri Abir, Karrou Marouan, Rouf Siham, Benhaddou Houssain, Kamaoui Imane, Mcelreavey Kenneth, Latrech Hanane

Abstract excerpt

OBJECTIVES: We present the first cases of two male brothers with Leydig cell hypoplasia secondary to a novel mutation in the LHCGR gene that has never been described before. CASE PRESENTATION: We report the case of two brothers with Leydig cell hypoplasia (LCH) type II caused by novel homozygous inactivating mutation of the LHCGR gene, located in exon 10 in c 947 position. The two patients presented at 11 years 7...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35670320
DOI: 10.1515/jpem-2021-0717

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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