Searchable abstracts of presentations at key conferences in endocrinology

ea0020p531 | Paediatric Endocrinology | ECE2009

Influence of the exon 3: deleted polymorphism of the GH receptor on glucose and lipid metabolism in GH treated subjects with GH deficiency: results of a preliminary study

Baiocchi Michela , Donati Chiara , Maselli Mara , Mella Patrizia , Prandi Elena , Pilotta Alba , Radetti Giorgio , Buzi Fabio

GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for G...

ea0014oc8.4 | Neuroendocrinology clinical | ECE2007

Idiopathic central hypothyroidism: report of a human natural model of congenital TRH receptor (TRHR) absence

Bonomi Marco , Busnelli Marta , Pilotta Alba , Prandi Elena , Maggi Mario , Buzi Fabio , Beck-Peccoz Paolo , Persani Luca

Central Hypothyroidism (CeH) is a rare thyroid hormone production defect due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ (several cases reported) and TRHR (only one case reported so far). Here, we report the clinical and genetic studies in 2 males and 3 females affected with isolated CeH with normal/low TSH levels (0.05–0.95 mU/L) and low FT4 levels (3.6–4.6 pM). None of the patients was detected at neo...