ESPE Abstracts

Background: 3-M syndrome is an autosomal recessive growth disorder characterised by severe prenatal and postnatal growth retardation caused by mutations in CUL7,OBSL1 or CCDC8.Clinical characteristics include dysmorphic facial features and skeletal abnormalities.Aim: Evaluation of clinical and molecular findings and the effect of growth hormone (GH) threrapy in seven patients with 3-M syndrome from five different familie...

Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this study was to determine the genetic and etiological factors of CH.Methods: 49 patients(female;n=24), from 24 families were included in the study. The data, collected retrospectively, consisted ...