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...

hrp0086p2-p575 | Perinatal Endocrinology P2 | ESPE2016

Persistent Hyperinsulinemic Hypoglycemic of Infancy

Fathalla Omalmir Gedafi , Doggaha Milad , Algazir Nadia , Hadeed Ibtisam , Algouil Milad , Abusrewil Suliman

Background: Persistent Hyperinsulinemic Hypoglycemic of Infancy (PHHI) is a clinically and genetically heterogeneous disorder with familial and sporadic form due to dysregulation of insulin secretion, PHHI is a severe disease that leads to brain damage. In diffuse type near total pancreatectomy has become the mainstay of surgical therapy for patients with PHHI who did not respond to medical therapy.Objective and hypotheses: To early detected cases of PHH...