Endocrine Abstracts

Idiopathic infantile hypercalcemia (IIH) (OMIM 143880) is characterised by severe hypercalcemia, failure to thrive, vomiting, dehydration and nephrocalcinosis. Laboratory evaluation of infants affected with this condition reveals hypercalcemia, suppressed parathyroid hormone and hypercalciuria. Recently loss of function mutations in CYP24A1 gene have been found to cause IIH (New England Journal of Medicine 2011 365 410–21). Short-term treatment for th...