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...

Introduction: Hypoglycaemia is a common paediatric medical emergency, hence prompt treatment with appropriate investigations of causes is essential.Aims: (1) Review current practice of investigating hypoglycaemia in children; (2) Improve awareness of local guidelines; (3) Overcome practical hurdles when investigating hypoglycaemiaMethods: • Retrospective audit of investigation of hypoglycaemic patients over a year using clinic...

Introduction: Hypoglycaemia is a common paediatric medical emergency, hence prompt treatment with appropriate investigations of causes is essential.Aims: 1) Re-audit investigations sent for children with hypoglycaemia after introduction of “Hypo-packs” from previous audit; (2) To improve awareness of local guidelines to unify clinical practice; (3) Review “Hypo-packs” and consider other improvements.Methods: A r...

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, ...