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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

Abstract

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 T392I. 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 T392I mutation, and measuring hormone binding and cAMP signaling. All mutant LHRs exhibited severe defects, including loss of ligand binding and cAMP production. Immunoblots showed little difference in protein levels between the WT and mutant receptors.

Original languageEnglish (US)
Pages (from-to)307-323
Number of pages17
JournalEndocrine Research
Volume31
Issue number4
DOIs
StatePublished - Dec 1 2005

Keywords

  • Leydig cell hypoplasia
  • Luteinizing hormone receptor
  • Mutation
  • Pseudohermaphroditism

ASJC Scopus subject areas

  • Endocrinology

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