Endocrine Abstracts

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 ...

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...

Background: Excess glucocorticoids result in Cushing’s syndrome (CS) which is characterised by increased food intake, central obesity, dyslipidaemia and insulin resistance, leading to the metabolic syndrome. AMPK is a regulator of energy homeostasis and plays an important role in the regulation of appetite, glucose uptake, lipogenesis and gluconeogenesis. We hypothesised that the effects of corticosteroids on metabolism would be mediated by changes in AMPK activity in a t...

This abstract was printed as a duplication of abstract P291 and corrected onlineBackground: Excess glucocorticoids result in Cushing’s syndrome (CS) which is characterised by increased food intake, central obesity, dyslipidaemia and insulin resistance, leading to the metabolic syndrome. AMPK is a regulator of energy homeostasis and plays an important role in the regulation of appetite, glucose uptake, lipogenesis and gluconeogenesis. We hypothesised...

Acromegaly is almost always due to a sporadic growth-hormone secreting pituitary adenoma, but familial acromegaly has been reported occasionally. Linkage and loss of heterozygosity studies have suggested that it is caused by a tumour suppressor gene located at 11q13. Recently mutations have been identified in a gene in some families with acromegaly alone or acromegaly and prolactinoma. The gene codes for the aryl hydrocarbon receptor interactive protein (AIP), a molecular chap...

Pituitary adenomas (PA), as well as pheochromocytomas and paragangliomas, are neuroendocrine tumors that arise from cells derived from the pituitary, adrenal and extra-adrenal nervous system, respectively. Recent studies have identified a growing series of susceptibility genes for these pathologies. Some genes may be associated with the development of both types of pathologies, as it is the case for succinate dehydrogenase complex genes, while, PAs have not been reported to da...

The somatostatin receptor 5 (sst5) and its truncated splicing variants (sst5TMD5, sst5TMD4) are considered putative biomarkers that can predict pharmacological response or aggressiveness in several endocrine-related pathologies, such as acromegaly. sst5 is encoded by a gene, SSTR5, that lacks introns within its coding sequence, and hence, the splicing variants identified are generated by non-canonical splicing events. However, the mechanisms underlying their genesis a...