Endocrine Abstracts

Background: Heterozygote germline mutations in the aryl-hydrocarbon receptor interacting protein (AIP) gene play a role in the pathogenesis of pituitary adenoma development in familial isolated pituitary adenoma as well as simplex pituitary adenoma cases. AIP mutation positive patients develop often aggressively growing tumours in early teenage years.Aims: The aim of this study was to perform comparative gene expression analysis of AIP mutation-positive ...

Background: AIP mutations cause sporadic and familial pituitary adenomas, but establishing the pathogenic role of missense AIP variants with unknown significance is difficult. The AIP interaction partner AHR – a xenobiotic-activated transcription factor – regulates transcription of xenobiotic-metabolising enzymes, mediates xenobiotic toxicity, and has been implicated in tumorigenesis.Aim: To describe the effect of AIP...

Background: Heterozygous germline AIP mutations can lead to young-onset invasive GH-secreting adenomas. There are no data available to explain the proliferative and invasive nature of AIP-mutation positive somatotrophinomas.Methods: Cell viability (MTS assay), invasion (single cell fluorescence invasion assay) and migration assays (Boyden chambers) were used to further characterise the phenotype of AIP-silenced GH3 cells. Affymetrix gen...

: AIP mutation-positive familial isolated pituitary adenoma is commonly diagnosed in young patients who have a poor prognosis due to large, treatment-resistant tumours. Microarray analysis carried out on AIP knockdown pituitary (GH3) cells and control cells, identified CDC42 as one of the genes that was up-regulated by loss of AIP protein. This small Rho GTPase activates MAPK signalling, suggesting it may contribute to the proliferative phenotype of AIP knock...

Introduction: Pituitary adenomas (PAs) account for <3% of all paediatric supratentorial tumours. Despite being benign, they can cause significant tumour- and treatment-related neuroendocrine and visual morbidity. Patients may be the index case for syndromes such as multiple endocrine neoplasia type 1 (MEN1).Case report: Patient R was referred at 11.9 years with longstanding headaches and bilateral visual deterioration to the point of near-blindness. ...

Introduction: Heterozygote loss-of-function mutations in AIP (Aryl hydrocarbon receptor interacting protein) predispose to young-onset pituitary adenomas. Homozygote murine knockout model of AIP leads to lethality. While the majority of the 75 published AIP mutations result in truncated or missing proteins, missense mutations are more difficult to characterise and to establish their pathogenic role. We have identified the orthologue of AIP, CG1847, in Drosophila melanogaster. ...

Background: Current guidelines recommend that susceptible patients should be tested and treated for AGHD. Still, it is not universally recognised as a distinct entity and reimbursement of GH replacement therapy is not available in some countries.Aim: 1) to record current practice of AGHD management throughout Europe and benchmark it against existing guidelines, 2) to evaluate educational status of health care professionals.Patients...

Introduction: Full blood count (FBC), C-reactive protein (CRP), albumin and serum inflammation-based scores reflect systemic inflammation and predict outcomes in oncological patients. While these are increasingly used in cancer, little is known in pituitary adenomas (PAs). We aimed to characterise FBC and inflammation-based scores in patients with PAs and investigate the usefulness of such parameters in predicting aggressive/refractory disease.Methods: W...

Introduction: Recently, major advances have been made in genetics of familial acromegaly and isolated pituitary adenoma (FIPA). Mutations in the aryl hydrocarbon interacting protein (AIP) gene have been found in 25–50% of patients with FIPA and familial acromegaly.Aim of the study: Our goal was to identify and collect data on patients who met the criteria for FIPA.Patients and methods: The patients were identified between 2008...

GH is an important anabolic hormone involved in the regulation of longitudinal bone growth. However, acromegaly patients have a higher prevalence of vertebral fractures despite normal bone mineral density (BMD), suggesting that overexpression of GH has adverse effects on skeletal architecture and strength. We used giant bovine GH (bGH) transgenic mice to analyse the effects of high serum GH levels on bone architecture and mechanical strength. Five month-old hemizygous male bGH...