hrp0098p1-78 | Multisystem Endocrinology | ESPE2024

The endocrine chameleon: expanding the phenotypic spectrum of pseudohypoparathyroidism 1A in infancy

Munteanu Martin , Resch Elisabeth , Iannou Phryne , Grasemann Corinna

Introduction: Inactivating PTH/PTHrP signaling disorders (iPPSD) including pseudohypoparathyroidism 1A (PHP1A) represent a heterogenous group of endocrine conditions. Associated phenotypes are complex and may consist of resistance to hormones and neurotransmitters as well as short stature, osteoma cutis and skeletal findings. Cases with unusual and poorly understood presentations attributed to PHP1A have been reported. PHP1A manifests at variable ages and the ...