作者
Elena Gianetti, Cintia Tusset, Sekoni D Noel, Margaret G Au, Andrew A Dwyer, Virginia A Hughes, Ana Paula Abreu, Jessica Carroll, Ericka Trarbach, Leticia FG Silveira, Elaine MF Costa, Berenice Bilharinho de Mendonça, Margaret de Castro, Adriana Lofrano, Janet E Hall, Erol Bolu, Metin Ozata, Richard Quinton, John K Amory, Susan E Stewart, Wiebke Arlt, Trevor R Cole, William F Crowley, Ursula B Kaiser, Ana Claudia Latronico, Stephanie B Seminara
发表日期
2010/6/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
95
期号
6
页码范围
2857-2867
出版商
Oxford University Press
简介
Context: Mutations in TAC3 and TACR3 (encoding neurokinin B and its receptor) have been identified in Turkish patients with idiopathic hypogonadotropic hypogonadism (IHH), but broader populations have not yet been tested and genotype-phenotype correlations have not been established.
Objective: A broad cohort of normosmic IHH probands was screened for mutations in TAC3/TACR3 to evaluate the prevalence of such mutations and define the genotype/phenotype relationships.
Design and Setting: The study consisted of sequencing of TAC3/TACR3, in vitro functional assays, and neuroendocrine phenotyping conducted in tertiary care centers worldwide.
Patients or Other Participants: 345 probands, 18 family members, and 292 controls were studied.
Intervention: Reproductive phenotypes throughout reproductive life and before and after therapy were …
引用总数
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E Gianetti, C Tusset, SD Noel, MG Au, AA Dwyer… - The Journal of Clinical Endocrinology & Metabolism, 2010