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ea0031oc2.1 | Steroids and thyroid | SFEBES2013

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers Nadia , Sun Yu , Bak Beata , van Trotsenburg Paul , Oostdyk Wilma , Voshol Peter , Persani Luca , Davis Timothy , le Tissier Paul , Gharavy Neda , Appelman-Dijkstra Natasha , Pereira Alberto , den Dunnen Johan , Breuning Martijn , Hennekam Raoul , Chatterjee V Krishna , Dattani Mehul , Bernard Daniel , Wit Jan-Maarten

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

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ea0030oc1.8 | Oral Communications 1 | BSPED2012

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers Nadia , Bak Beata , Sun Yu , van Trotsenburg Paul , Oostdijk Wilma , Voshol Peter , Persani Luca , Davis Timothy , le Tissier Paul , Gharavy Neda , Appelman-Dijkstra Natasha , Pereira Alberto , Dunnen Johan den , Breuning Martijn , Hennekam Raoul , Chatterjee V Krishna , Dattani Mehul , Bernard Daniel , Wit Jan-Maarten

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Endocrine Abstracts

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Loss-of-function mutations in IGSF1 cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

BiosciAbstracts