Searchable abstracts of presentations at key conferences in endocrinology

ea0032p1000 | Thyroid (non-cancer) | ECE2013

Genetic examination of the TSHR gene in patients with congenital hypothyroidism: systematic survey of a Hungarian cohort

Labadi Arpad , Gellen Balazs , Ruzsa Beata , Rideg Orsolya , Kovacs Gabor L , Mezosi Emese , Persani Luca

Loss-of-function mutations in the TSH receptor (TSHR) gene are one of the most common known causes of congenital hypothyroidism (CH). While heterozygous mutations result in nonautoimmune isolated hyperthyrotropinemia, homozygous and compound heterozygous mutations may cause overt CH of various severity depending on the localization and type of the mutations.In our study we performed the systematic genetic analysis of the TSHR gene of a cohort of 85 Hunga...

ea0016p584 | Paediatric endocrinology | ECE2008

Growth hormone deficient children born small-for-gestational-age need higher than replacement dose of hGH for successful treatment

Peter Ferenc , Luczay Andrea , Solyom Eniko , Gellen Balazs , Niederland Tamas , Felszeghy Eniko , Sagodi Laszlo , Solyom Janos , Muzsnai Agota

Growth hormone deficient (GHD) children born small-for-gestational-age (SGA) receive the same hGH dose as the children born with appropriate weight/length for gestational age (AGA). There are very few data on their lower growth response to the usual GH replacement dose. The aim of this multi-centre retrospective study is to analyse the hGH dose dependency of GHD children with SGA.SGA was defined as a birth weight/length below – 2 SD for gestational ...