期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 357, 期 9, 页码 897-904出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa071999
关键词
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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(rightarrow)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. N Engl J Med 2007;357:897-904.
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