ea0031oc2.1 | Steroids and thyroid | SFEBES2013
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...