ea0078oc4.2 | Oral Communications 4 | BSPED2021
Prentice Philippa
, Wilson Louise
, Gevers Evelien
, Buck Jackie
, Raine Joseph
, Rangasami Jayanti
, McGloin Helen
, Peters Catherine
, Amin Rakesh
, Wei Gan Hoong
, Hughes Claire
, Brain Caroline
, Dattani Mehul
, Allgrove Jeremy
Background & Objective: Pseudohypoparathyroidism (PHP), a heterogeneous condition, classically causes parathyroid hormone (PTH) resistance. PHP1a is caused by heterozygous inactivating mutations on the maternally derived GNAS allele. PHP1b results from methylation defects at the GNAS imprinted gene cluster, which are either sporadic, or familial, normally associated with maternally inherited intragenic STX16 deletions. We investigated the presentation, phenotype, ...