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Article

A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.

Endocrine research - 1 Jan 2005

Pals-Rylaarsdam Robin, Liu Guoquan, Brickman Wendy, Duranteau Lise, Monroe Joson, El-Awady Mostafa K, Gad Yehia Z, Shenker Andrew

Abstract excerpt

We report a novel mutant of the luteinizing hormone receptor (LHR) in a case of familial Leydig cell hypoplasia and pseudohermaphrotidism. The proband was homozygous for two missense mutations, T1121C and C1175T, causing substitutions I374T and T3921. The molecular effects of the mutations were investigated by heterologous expression of the WT LHR, the double mutant LHR, or receptors with either the I374T or the...

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PMID: 16433250
DOI: 10.1080/07435800500430890

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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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A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism.PMID 16433250Read ↗

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