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Previous Volume 357:897-904 August 30, 2007 Number 9 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Supplementary Material Editorial by Bhasin, S. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

SUMMARY

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+1GC. 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.

Source Information

From the Section of Endocrinology, University Hospital of Brasília, Faculty of Medicine (A.L.-P., L.A.G., P.P.N., L.A.C.), and the Molecular Pharmacology Laboratory, Faculty of Health Sciences (G.B.B., F.A.R.N.), University of Brasília, Brasília; the Sabin Institute and Laboratory of Clinical Analysis, Brasília (G.B.B.); and the Developmental Endocrinology Unit, Hormone and Molecular Genetic Laboratory, São Paulo University Medical School, São Paulo (A.C.L.) — all in Brazil.

Drs. Lofrano-Porto and Barra and Drs. Casulari and Neves contributed equally to this article.

Address reprint requests to Dr. Lofrano-Porto at the Hospital Universitário de Brasília, Laboratório de Farmacologia Molecular, Campus Universitário Darcy Ribeiro, Caixa Postal 04473, CEP 70.919-970, Brasília DF, Brazil, or at adlofrano{at}unb.br.

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