Endocrine Abstracts

In late pregnancy the mother must mobilise considerable energy stores to support fetal growth. Failure to appropriately nourish the fetus has significant obstetric consequences – gestational diabetes and fetal growth restriction (FGR). Despite this, relatively little is known about how metabolic responses are stimulated in the mother, and how they may go wrong. We previously found that high levels of the product of an imprinted gene, Delta-like homologue-1 (D...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Somatic activating mutations in BRAF, encoding B-Raf, have been described in tumours and recently craniopharyngiomas. Germline mutations in BRAF and other components of the RAS/MAPK pathway are found in RASopathies, whose features include endocrine deficiencies but not craniopharyngiomas. We report three BRAF mutations (two of which are novel) in four children with congenital hypopituitarism. To demonstrate the functional role of the three variants w...

Introduction: Acromegaly links to cardiomyopathy and potential cardiac failure, if untreated. Mechanisms involved in acromegalic cardiomyopathy are incompletely understood. We investigated the effects of growth hormone (GH) excess and somatostatin receptor ligands (SRLs) on cardiac fibrosis using an acromegalic mouse model with pituitary-specific deletion of the Aip gene coding aryl hydrocarbon receptor interacting protein (AipFlox/Flox;Hesx1<su...