Luteinizing hormone beta mutation and hypogonadism in men and women.
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.
Lofrano-Porto
Adriana
A
Section of Endocrinology, University Hospital of Brasília, Faculty of Medicine, University of Brasília, Brasília, Brazil. adlofrano@unb.br
Barra
Gustavo Barcelos
GB
Giacomini
Leonardo Abdala
LA
Nascimento
Paula Pires
PP
Latronico
Ana Claudia
AC
Casulari
Luiz Augusto
LA
da Rocha Neves
Francisco de Assis
Fde A
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
D037101:Luteinizing Hormone, beta Subunit; D012333:RNA, Messenger; D007986:Luteinizing Hormone