Endocrine Abstracts

Before the use of potent acid suppressing drugs and in particular proton pump inhibiters (PPI), most patients with gastrinoma presented with Zollinger–Ellison syndrome and diagnosis was problematic in only a few. In recent years, the syndrome is rarely seen and gastrinoma patients present with less overt symptoms and hypergastrinaemia which may be mild. Increasingly patients present later.In the population, hypergastrinaemia most commonly occurs bec...

Introduction: Hypocalcaemia is a rare presentation of thyrotoxicosis. We describe a patient with severe life-threatening hypocalcaemia and suggest pathogenic mechanisms.Case report: A 66-year old lady with long-standing insulin-treated type 2 diabetes presented acutely with generalised weakness and a collapse at home. Prior to admission, she had been treated for an infected neuro-ischaemic plantar ulcer with broad-spectrum antibiotics. She had developed ...

Vasoactive intestinal peptide (VIP) and pituitary adenylate cyclase-activating peptide (PACAP) are important neuropeptides that are structurally related. They have been found to exert many physiological and pathophysiological effects through the activation of three specific receptors: PAC1R, VPAC1R, and VPAC2R. In tetrapods, PACAP and VIP are potent agonists to VPAC2R. In teleosts, we have previously identified a PHIR in goldfish which shares high level of sequence similarity ...

Introduction: POMC is activated in ACTH-dependent Cushing’s Syndrome. We have previously shown that RNA interference (RNAi) targeting POMC coding and promoter sequences induces silencing of POMC and a reduction in ACTH. We have modified our most potent exonic sequence with locked nucleic acid (LNA) chemistry. This is purported to increase serum stability. Here we test whether the LNA confers stability without compromising siRNA silencing potency.<...

Objective: The British Thyroid Association (BTA) published guidelines for thyroid function testing (TFTs) in June 2006, recommending that TFTs should not be requested for acute medical patients in the absence of specific clinical indications. This audit assesses the proportion of thyroid function tests performed on acute medical inpatients that are indicated.Design: Retrospective data collection on 205 sequential thyroid function tests performed over 3 m...

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition that is rare in childhood. MEN2 is sub-classified into three categories that all include familial medullary thyroid carcinoma (MTC). Familial MTC has no other associated tumours. MEN2A is characterised by MTC, phaeochromocytoma and parathyroid tumours and MEN2B consists of MTC, phaeochromocytoma, ganglioneuromatosis and usually a Marfanoid habitus. The identification of RET as the causative gene has ...

Introduction: Pro-opiomelanocortin (POMC) is a precursor polypeptide which is cleaved to make adrenocorticotrophic hormone (ACTH) in the anterior pituitary. It is activated in Cushing’s disease. Current therapies for Cushing’s disease are inadequate. RNA interference (RNAi) allows highly specific and effective suppression of gene expression by use of short interfering RNAs (siRNAs).Method: In the current study we employed custom designed siRNAs...

Antithyroid drug (ATD) resistant thyrotoxicosis raises difficult management issues. We describe three recent cases of apparent refractory thyrotoxicosis.Case 1: A 31 year old woman presented in July 2003 with thyrotoxicosis. Despite treatment with carbimazole (CBZ) 20 milligrams tds, serum free thyroxine (FT4) concentrations remained around 60 picomoles per litre (11-20). In October, CBZ dose was increased to 40 milligrams bd and dexamethasone 2 milligra...

We have previously reported comparisons of ACROQOL, a disease-specific questionnaire for QOL in patients with acromegaly, with the non-disease-specific generic tools Psychological General Well-Being Schedule (PGWBS) and EUROQOL and disease-specific signs and symptoms score (SSS). ACROQOL comprises 22 questions (subdivided into physical and psychological classes, total score out of 110 quoted as percentage, higher scores = better QOL). SSS rates 5 features of acromegaly each ra...

A 44 year old woman presented in November 2000 with a two week history of headaches, vomiting and blurred vision. Past history consisted of type 2 diabetes and migraine. Initial investigation revealed hyponatraemia (sodium 114 mmol/l) and deranged liver biochemistry. ANA, anti dsDNA, cANCA, pANCA, anti Ro, La, RNP, Scl-70, Jo-1, smooth muscle and mitochondrial antibodies were negative. MRI revealed a 13x18x15mm pituitary mass elevating the optic chaism, without evidence of rec...