ESPE Abstracts

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...

Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...

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...