Endocrine Abstracts

Introduction: Pseudohypoparathyroidism Type 1a (PHP1a) is a rare disorder caused by mutation in GNAS, which encodes the alpha-subunit of the trimeric stimulatory G protein, Gsα, and links numerous G protein-coupled receptors (GPCR) to adenylyl cyclase. GPCRs are crucial for intracellular endocrine signalling, and since GNAS is expressed predominantly from the maternal allele in some tissues, maternally inherited loss of function GNAS mutations are associated with...