ESPE Abstracts

Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.<p cla...

Introduction: Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. Biallelic loss-of-function variants in the CYP24A1 —which encodes the vitamin D-24-hydroxylase that regulates 1,25-(OH)2D catabolism—have been associated with IIH. Cases of IIH with CYP24A1 variants reportedly have several complications—including nephrocalcinosis, cardiovas...

Background: Hashimoto thyroiditis (HT) is characterized by autoimmune-mediated destruction of the thyroid gland. Ca metabolism disturbance due to hypoparathyroidism among HT patients remains to be clarified.Objective: To clarify the relationship between HT and primary hypoparathyroidism.Patients and Methods: Serum levels of Ca, albumin, and whole PTH (wPTH, ECLIA) were measured in ...