ESPE Abstracts

Introduction: Heterozygous inactivating mutations that occur in the calcium sensing receptor (CaSR) gene often lead to benign mild to moderate and parathormone (PTH) dependent familial hypocalciuric hypercalcemia (FHH). Neonatal severe hyperparathyroidism is a clinical condition that develops due to homozygous inactivating mutations in the CASR gene and results in severe, life-threatening hypercalcemia. In this study, we aimed to discuss the differences in clinical, genetic, l...

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...