title: Luteinizing hormone beta mutation and hypogonadism in men and women.
abstract: 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.
authors.affiliation: Section of Endocrinology, University Hospital of Brasília, Faculty of Medicine, University of Brasília, Brasília, Brazil. adlofrano@unb.br
authors.forename: Adriana
authors.initials: A
authors.lastname: Lofrano-Porto
authors.forename: Gustavo Barcelos
authors.initials: GB
authors.lastname: Barra
authors.forename: Leonardo Abdala
authors.initials: LA
authors.lastname: Giacomini
authors.forename: Paula Pires
authors.initials: PP
authors.lastname: Nascimento
authors.forename: Ana Claudia
authors.initials: AC
authors.lastname: Latronico
authors.forename: Luiz Augusto
authors.initials: LA
authors.lastname: Casulari
authors.forename: Francisco de Assis
authors.initials: Fde A
authors.lastname: da Rocha Neves
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000378:metabolism; D007986:Luteinizing Hormone / Q000172:deficiency* / Q000378:metabolism; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011627:Puberty; D012333:RNA, Messenger / Q000378:metabolism
chemical_list: D037101:Luteinizing Hormone, beta Subunit; D012333:RNA, Messenger; D007986:Luteinizing Hormone