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Article

[Familial male-limited precocious puberty due to Asp578His mutations in the LHCGR gene: clinical characteristics and gene analysis in an infant].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2017

Wang Min, Li Min, Liu Yue-Sheng, Lei Si-Min, Xiao Yan-Feng

Abstract excerpt

The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical...

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Identifiers

PMID: 29132462
PMCID: PMC7389323

Genes

LHCGR

Variants

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[Familial male-limited precocious puberty due to Asp578His mutations in the LHCGR gene: clinical characteristics and gene analysis in an infant].PMID 29132462Read ↗

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Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External GenitaliaSemantic proximity Read ↗

[A report of familial male-limited precocious puberty caused by a germ-line heterozygous mutation (M398T) in luteinizing hormone receptor gene].Semantic proximity Read ↗

A new variant in signal peptide of the human luteinizing hormone receptor (LHCGR) affects receptor biogenesis causing leydig cell hypoplasia.Semantic proximity Read ↗

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[Genetic diagnosis for a patient with Leydig cell hypoplasia caused by two novel variants of LHCGR gene].Semantic proximity Read ↗

Novel compound heterozygous variants in the LHCGR gene identified in a subject with Leydig cell hypoplasia type 1.Semantic proximity Read ↗

A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty.Semantic proximity Read ↗

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