Endocrine Abstracts

Background: In patients with phaeochromocytoma, sudden and/or chronic exposure to catecholamines may predispose to cardiac pathology, including left ventricular (LV) hypertrophy, myocardial infarction, stress-induced cardiomyopathy and heart failure. We conducted the first prospective, multicentre study using cardiovascular magnetic resonance (CMR) imaging to describe the variety and incidence of cardiac abnormalities in phaeochromocytoma.Methods: Fifty ...

Introduction: Germline AIP and MEN1 mutations are the main known aetiologies of familial pituitary neuroendocrine tumours (PitNETs), which represent 5% of all PitNETs. We compared the clinical and tumour characteristics of AIP (AIP mut) and MEN1 mutation-positive (MEN1 mut) PitNET patients.Methods: We retrospectively analysed 70 MEN1 mut and 167 AIP mut patients with PitNETs. MEN...

Pituitary non-functioning adenomas (NFAs), arising mostly from gonadotroph cells, represent the second most common type of pituitary tumour, after prolactinomas. NFAs are monoclonal in origin, but mutations of genes associated with hereditary pituitary syndromes (e.g. MEN1, AIP, CDKN1B, and PRKAR1A), classic oncogenes or tumour suppressor genes are rarely found. We therefore performed whole-exome sequence analysis to determine the tumourigenic events in pituitary NFAs using DN...

Neuroendocrine tumours (NETs), occurring at multiple sites including the pancreas, gastrointestinal tract, lung, thymus and pituitary, usually present at an advanced metastatic stage, and are increasing in incidence and prevalence as awareness and diagnostic techniques have improved. Treatments for NETs including surgery, drugs (e.g. somatostatin analogues), chemotherapy, radiotherapy and radionuclide therapy, are often not effective and as such additional therapeutic agents a...

Acromegaly causes a distinct cardiomyopathy. Growth hormone deficiency (GHD) limits cardiac response to exercise and increases cardiac mortality. Cardiac magnetic resonance imaging (CMR) is considered the gold standard for assessment of cardiac mass and provides data on function, fibrosis, valves and ischaemia. Twenty-three patients with abnormal GH levels (acromegaly, n=13; adult-onset GHD, n=10) and 23 matched controls underwent CMR. Patients had repeat CMR at ...

Objective: To review the diagnostic features and localization accuracy of different investigations for insulinomas diagnosed 1990–2009 at a single tertiary referral centre.Design: A cross-sectional, restrospective analysis, including sporadic tumours and those in multiple endocrine neoplasia syndromes.Methods: Case notes and investigation results were reviewed from patients with biochemically or histologically-proven insulinom...

AIP mutations predispose to familial isolated pituitary adenomas (FIPA) and 45 different AIP mutations have been described in the literature. Most of these mutations result in complete disruption of the C-terminal region of the AIP protein due to early stop codons. In this study we were particularly interested in the effect of AIP mutations in the promoter region (−270−−269CG & −220C) and 2 synonymous mutations (c.249G>T, p.G83= and c...

Background: Familial pituitary adenomas can occur in the classic syndromes of MEN-1 and Carney complex. Recently an autosomal dominant disease with incomplete penetrance has been described as ‘familial-isolated-pituitary-adenoma’ (FIPA). Previous studies of familial acromegaly and gigantism disclosed germline mutations in the AIP gene located in the previously suspected chromosome 11q13 region.Aims: To analyse the prevalence of AIP-mutations in...

Ghrelin, cannabinoids and glucocorticoids have all orexigenic and widespread metabolic effects. AMPK is a major controller of many metabolic processes. We have studied the effects of ghrelin and glucocorticoids and their interaction with endocannabinoids using cannabinoid-receptor-1 (CB1) knock-out mice and CB1 antagonist-treated mice, and using tissue samples from patients with Cushing’s syndrome and from a rodent model of Cushing’s syndrome. AMPK activity and downs...

Mutations in AIP have been identified in a significant proportion of families with pituitary adenomas, most commonly in familial acromegaly. However, no data are available about the pituitary expression of AIP and how lack of AIP is involved in tumorigenesis.We identified 10 kindreds with AIP mutations out of 31 families. We studied RNA and protein expression of AIP in normal as well as familial and sporadic pituitary adenomas. In the normal pituitary st...