hrp0092p3-296 | Late Breaking Abstracts | ESPE2019

Neonatal Severe Hyperparathyroidism - Using Genetics to Determine Treatment

Avnon Ziv Carmit , Beeri Rachel , Levy-Lahad Ephrat , Aurbach Adi , Levy-Khademi Floris

Background: Disorders of the calcium sensing receptor (CaSR) cause hyper- and hypo- calcemia, depending on the location and type of mutation. Familial hypocalciuric hypercalcemia is a benign disorder in which calcium levels are slightly elevated in the presence of slightly elevated parathyroid hormone (PTH). Neonatal severe hyperparathyroidism (NSHPT) is a rare life-threatening disorder in which there are high levels of calcium accompanied by high levels of pa...