Endocrine Abstracts

Familial isolated pituitary adenoma (FIPA) occurs if two or more members of a family develop pituitary adenoma with no features of multiple endocrine neoplasia type 1 or Carney complex. FIPA is an autosomal dominant disease with incomplete penetrance. FIPA families can be divided into two distinct groups based on genetic and phenotypic features. In 20% of FIPA families mutations have been identified in the aryl hydrocarbon receptor interacting protein (AIP) gene. The AIP-posit...

Background: Botulinum neurotoxin inhibits muscle function by interfering with neurotransmitter release from secretory vesicles. The mechanism underlying this effect involves cleavage of SNARE proteins which are required for vesicle docking at the plasma membrane. The ability of botulinum neurotoxin serotypes to cleave SNARE proteins and inhibit secretion is being exploited for therapeutic purposes by Syntaxin Ltd with their ‘targeted secretion inhibitor technology’ (...

Mutations in the co-chaperone molecule AIP account for a predisposition to pituitary tumours in some families with familial isolated pituitary adenomas (FIPA). We now report on four apparently-unrelated families with the same mutation and originating from the same geographical area, suggesting a possible founder mutation.The index patient had gigantism (19 years, 208 cm) and had a female 4th cousin, once removed (13 years, 191 cm) with a large pituitary ...

We have previously shown that the orexigenic and peripheral adipogenic effects of ghrelin are mediated by its effect on the metabolic enzyme AMPK. As the cannabinoid (CB1)-antagonist rimonabant inhibits the orexigenic effect of ghrelin, we suggest that there is an interaction between cannabinoids and ghrelin.To study the involvement of CB1 in the effects of ghrelin, wild-type (WT) and CB1-knockout mice were treated with ghrelin and rimonabant.<p clas...

Pituitary adenomas are present in ∼25% of autopsy samples, and recent studies have also suggested that clinically important pituitary adenomas are some 5 times more common than previously recognised. 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 shown that it is caused by a tumour suppressor gene located at 11q13; very recent...

Medullary thyroid carcinoma (MTC) is a rare malignancy which has often metastasised at time of diagnosis. Surgical resection represents the only prospect for cure. However, debulking neck surgery may be beneficial in advanced cases. Prophylactic surgery is increasingly undertaken in asymptomatic patients with known mutations in the RET oncogene. The aim was to describe the outcome following initial surgical treatment for MTC at our institution. We performed a retrospe...

In Northern Ireland, the sole tertiary referral centre for pituitary disease which includes neurosurgery and endocrinology for ~1.9 million people, is based in the Royal Victoria Hospital, Belfast. A retrospective study has been commenced to examine clinical, biochemical, histopathological and radiological data for all patients operated on across an approximately 20 year period in Northern Ireland. Ethical approval was obtained from the Northern Ireland Biobank (study num...

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...

Context: Serum IGF-binding protein-3 (IGFBP-3) and molar IGF-I to IGFBP-3 ratio can aid the diagnosis of GH-related diseases. However, their clinical utility is limited by lack of validated reference intervals.Objectives: To establish age-, gender- and Tanner stage-specific reference intervals for IGFBP-3 and IGF-I to IGFBP-3 ratio for Indian ethnicity.Setting and Participants: We conducted a cross-sectional epidemiological study (...

Non-functioning pituitary adenomas (NFPAs) are the second most common subtype (15-43%) of all clinically presenting pituitary adenomas. Although the primary treatment of symptomatic NFPAs is surgery, gross total resection is achieved only in about 66% of the cases, and 20% of gross total resected tumours recur after 10 years. Despite recent advances in medical management of pituitary tumours, NFPAs remain the only subtype with no widely accepted pharmacological treatment. Expr...