hrp0095p1-229 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Neurological symptoms leading to Pseudohypoparathyreoidism 1B (iPPSD3)

Flury Monika , Unger Elisabeth , Porrmann Joseph , Huebner Angela

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 ...