ESPE2016 Poster Presentations Perinatal Endocrinology P2 (23 abstracts)
Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene
Nadia Alghazir , Omalmir Gadaffi , Ibtisam Hadeed , Suliman Abusrewil , Milad Doggah & Milad Guail
Tipoli Medical Center, Tipoli, Libya
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 the calcium-sensing receptor can cause FHH or NSHPTT. NSHPT represents the most sever expression of FHH and courses as life threatening condition.
Method: CASR gene mutation analysis performed on genomic DNA of the siblings and their parents.
Results: A novel homozygous mutation in CASR was identified in the asymptomatic normocalcaemic parents and the symptomatic three siblings (female and 2 male) so confirming the sever neonatal hyperparathyroidism in the sibling.
Conclusion: The identification of this novel CASR gene mutation established the basis of hypercalcemia in the this family and further management.
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