hrp0092p2-195 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Clinical Features and Effect of Growth Hormone Treatment in 3-M Syndrome Cases with Severe Growth Retardation

Pinar Öztürk Ayse , Altunoglu Umut , Karakiliç Özturan Esin , Toksoy Güven , Poyrazoglu Sükran , Bas Firdevs , Uyguner Oya , Darendeliler Feyza

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...

hrp0092p1-145 | Thyroid | ESPE2019

The Investigation of Genetic Etiology in Familial Cases with Congenital Hypothyroidism

Kardelen Al Asli Derya , Isik Fatma Büsra , Özturan Esin Karakiliç , Sözügüzel Mavi Deniz , Öztürk Ayse Pinar , Poyrazoglu Sükran , Parlayan Cüneyd , Cangül Hakan , Bas Firdevs , Darendeliler Feyza

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 ...