Endocrine Abstracts

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...

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 ...