Endocrine Abstracts

Case report: 24-year. old man presented with change in facial appearance and joint pain. His symptoms began at puberty with the thickening and folding of the skin on the forehead and scalp and thickening of his fingers. These changes progressed over the next 5 years with marked seborrhoea, hyperhidrosis and linear palmar–plantar keratosis. The lower legs and forearms are cylindrically thickened, hands and feet increased in size, the terminal phalanges of the fingers show ...

Introduction: About 30% of all familial isolated pituitary adenoma (FIPA) and 50% of acromegaly families have a mutation in the aryl hydrocarbon receptor-interacting protein gene (AIP; Chahal, TEM, 2010). The functional role of AIP in somatotroph cells is unknown. Recently, it has been proposed that wild type AIP (wtAIP) is a tumor suppressor gene, role that is lost in the different mutant AIPs (mAIP; Leontiou, JCEM, 2008). In the adenomas, mAIPs are usually foun...

Background: It is often difficult to define the clinical relevance of a novel gene variant. In silico analyses of variants located close to exon–intron-junctions are utilised to predict the result of these basepair changes. We have previously identified two splice-site variants in AIP and confirmed the predicted changes for c.249G>T, p.G83AfsX15 and c.807C>T. We identified the c.469-2A>G heterozygous variant located at the end of intron-3 in a childhood...