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hrp0086fc11.1 | Thyroid | ESPE2016

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

Heinen Charlotte , Losekoot Monique , Sun Yu , Watson Peter , Fairall Louise , Joustra Sjoerd , Zwaveling-Soonawala Nitash , Oostdijk Wilma , van den Akker Erica , Santen Gijs , van Rijn Rick , Dreschler Wouter , Surovtseva Olga , Biermasz Nienke , Hennekam Raoul , Wit Jan , Schwabe John , Boelen Anita , Fliers Eric , van Trotsenburg Paul

Background: Congenital central hypothyroidism (CeH) may occur isolated, or in combination with other pituitary hormone deficiencies. Although a third causative gene for CeH was recently reported (IGSF1), the aetiology of isolated CeH has remained unexplained in most cases.Objective and hypotheses: We hypothesized that in three relatives with unexplained isolated CeH a mutation in another gene might be responsible for the phenotype.<p class="...

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ESPE Abstracts

Mutations in TBL1X as a Novel Cause of Familial Central Hypothyroidism

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