• PMID: 17761593
• Gene Name: LHB
• Condition: Infertility
• Association: The study concludes that IVS2+1G?C mutation induced a gross abnormality in the processing of LHB mRNA, causing familial selective hypogonadotropic hypogonadism
• Mutation: 5? splice site in LHB: IVS2+1G?C
• Population size: 3
• Population details: 3 affected
• Age: 38, 30, 29
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Hypogonadism, Azoospermia,

Luteinizing hormone beta mutation and hypogonadism in men and women

Lofrano-Porto A, Barra GB, Giacomini LA, Nascimento PP, Latronico AC, Casulari LA, da Rocha Neves Fde A.

Selective luteinizing hormone deficiency due to mutations in the luteinizing hormone beta-subunit gene (LHB) is a rare cause of hypogonadism. We describe the clinical features of a consanguineous family in which three siblings, two men and one woman, had hypogonadism related to isolated luteinizing hormone deficiency. These subjects have a newly discovered homozygous mutation of a 5' splice site in LHB: IVS2+1G-->C. This mutation disrupts the splicing of messenger RNA (mRNA), generating a gross abnormality in the processing of the luteinizing hormone beta-subunit mRNA, which abrogates the secretion of luteinizing hormone. We also determined that the female phenotype of this LHB mutation is characterized by normal pubertal development, secondary amenorrhea, and infertility. CI - Copyright 2007 Massachusetts Medical Society. FAU - Lofrano-Porto, Adriana AU - Lofrano-Porto A AD - Section of Endocrinology, University Hospital of Brasília, Faculty of Medicine, University of Brasília, Brasília, Brazil. adlofrano@unb.br FAU - Barra, Gustavo Barcelos AU - Barra GB FAU - Giacomini, Leonardo Abdala AU - Giacomini LA FAU - Nascimento, Paula Pires AU - Nascimento PP FAU - Latronico, Ana Claudia AU - Latronico AC FAU - Casulari, Luiz Augusto AU - Casulari LA