ESPE Abstracts

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 ...

Carney complex 1 (CNC, OMIM# 160980) is an autosomal-dominantly inherited complex tumor predisposition syndrome associated with skin pigment abnormalities and neoplasms of heart, endocrine glands and other organs. CNC is caused by heterozygous constitutional loss-of-function variants in the PRKAR1A-gene. PRKAR1A codes for the cAMP-dependent protein kinase type I-alpha regulatory subunit, an enzyme that represents an integral part of protein kinase A (PKA) tha...