hrp0086p2-p592 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene

Alghazir Nadia , Gadaffi Omalmir , Hadeed Ibtisam , Abusrewil Suliman , Doggah Milad , Guail Milad

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...