ESPE Abstracts

Background: Neonatal diabetes, diabetes diagnosed before 6 months of age, is rare, with incidence of approximately 1:90,000–160,000 live births. In approximately half of cases, neonatal diabetes is transient 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 congen...

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...