• PMID: 16433250
• Gene Name: LHR
• Condition: Leydig cell hypoplasia, pseudohermaphrotidism
• Association: 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 ei
• Mutation: T1121C, C1175T, I374T, T392I
• Population size: 1
• Population details: 1
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Leydig cell hypoplasia, pseudohermaphrotidism

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

Pals-Rylaarsdam R, Liu G, Brickman W, Duranteau L, Monroe J, El-Awady MK, Gad YZ, Shenker A.

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 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. FAU - Pals-Rylaarsdam, Robin AU - Pals-Rylaarsdam R AD - Department of Pediatrics, Northwestern University Medical School and Children's Memorial Institute for Education and Research, Chicago, Illinois, USA. rrylaarsdam@trnty.edu FAU - Liu, Guoquan AU - Liu G FAU - Brickman, Wendy AU - Brickman W FAU - Duranteau, Lise AU - Duranteau L FAU - Monroe, Joson AU - Monroe J FAU - El-Awady, Mostafa K AU - El-Awady MK FAU - Gad, Yehia Z AU - Gad YZ