hrp0086p2-p581 | Perinatal Endocrinology P2 | ESPE2016

Missense Mutation of GLIS3 Gene Resulting Inneonatal Diabetes and Congenital Hypothyroidism

Alghazir Nadia , Fathalla Omalmir Gedafi , Hadeed Ibtisam , Algouil Milad , Abusag Milad , Doggaha Milad , Alsahli Hamida , Abusrewil Suliman , Philipson Louis Philipson

Background: Neonatal diabetes, diabetes diagnosed before six months of age, is rare, with incidence of approximately 1:90 000–160 000 live births. In approximately half of cases, neonatal diabetes istransient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (Glis3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and conge...