ESPE Abstracts (2016) 86 P-P2-592

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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