Article
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood.
The Journal of clinical endocrinology and metabolism - 1 Jun 2010
Gianetti Elena, Tusset Cintia, Noel Sekoni D, Au Margaret G, Dwyer Andrew A, Hughes Virginia A, Abreu Ana Paula, Carroll Jessica, Trarbach Ericka, Silveira Leticia F G, Costa Elaine M F, de Mendonça Berenice Bilharinho, de Castro Margaret, Lofrano Adriana, Hall Janet E, Bolu Erol, Ozata Metin, Quinton Richard, Amory John K, Stewart Susan E, Arlt Wiebke, Cole Trevor R, Crowley William F, Kaiser Ursula B, Latronico Ana Claudia, Seminara Stephanie B
Abstract excerpt
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...
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