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 ...