ESPE Abstracts

Background: Pseudohypoparathyroidism is a rare congenital disorder presenting with variable symptoms and features. Since 2016 a new international nomenclature subclassifies the different forms of pseudohypoparathyreoidism as inactivating PTH/PTHrP signalling disorders (iPPSD). Pseudohypoparathyreoidism 1A (iPPSD2) and 1B (iPPSD3) are mainly characterized by resistance of parathyroid hormone (PTH) with high serum PTH levels and thyrotropin (TSH) resistance. In ...

X-linked hypophosphatemia (XLH, MIM#307800) is a rare, dominantly inherited skeletal disorder characterized by excessive production and elevated circulating levels of fibroblast growth factor 23 (FGF23) resulting in renal phosphate wasting, hypophosphatemia, and defective bone mineralization. This leads to rickets, osteomalacia, pain, skeletal deformities, short stature, and reduced physical function. Recently, a monoclonal FGF23 antibody (burosumab) has become available as a ...