hrp0082p1-d1-239 | Thyroid | ESPE2014

Genotype and Phenotype Characterization of a Series of Italian Patients Affected with Idiopatic Central Hypothyroidism

Bonomi Marco , Duminuco Paolo , Salvatoni Alessandro , Maggi Mario , Buzi Fabio , Pilotta Alba , Radetti Giorgio , Beck-Peccoz Paolo , Campi Irene , Schoenmakers Nadia , Joustra Sjoerd , Wit Jan Maarten , Bernard Daniel , Nespoli Luigi , Bozzola Mauro , Persani Luca

Background: Central hypothyroidism (CeH) is a rare thyroid hormone deficiency due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ, TRH receptor (TRHR) or IGSF1 genes while the combined pituitary hormone deficits (CPHDs) are the consequence of defects in embryonic pituitary transcription factors or in the prokineticin receptor 2 (PROKR2).Patients series: Here we report nine males (M) and 15 fema...