Endocrine Abstracts

G-protein coupled receptors (GPCRs) comprise the largest superfamily within the human proteome, and are frequent targets for hormones and drugs. Important insights about the roles of GPCRs in endocrinology have been provided by studies of clinical disorders, as illustrated by those of calcium regulation, which involves the parathyroids, first discovered in an Indian Rhinoceros by Sir Richard Owen in 1849. The parathyroids and kidneys express the extracellular calcium-sensing r...

Funding and publication in biomedical research has become highly competitive and to succeed, it has become increasingly important to include statements that have broad appeal, i.e., impact, especially in the summaries of grant applications and manuscripts. The key elements in these statements are to keep them short, simple and ‘sweet’ (i.e. appealing to a wider audience). Consider the three following statements:i) We’ve got no money, so we...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumours. In addition, some patients may also develop adrenal cortical tumours, carcinoid, facial angiofibromas, collagenomas, and lipomatous tumours. The gene causing MEN1 is located on chromosome 11q13, and encodes a 610 amino-acid protein, menin, that represents a tumour suppressor, as its loss of expression is ...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterised by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. Over 60% of the anterior pituitary tumours in MEN1 patients are prolactinomas, ~25% are somatotrophinomas, ~5% are corticotrophinomas, and the remainder appear to be non-functioning. The MEN1 gene, a tumour suppressor, is located on chromosome 11q13, and more than 1300 MEN1 mutations, which are lik...

Case history: A 28-year-old gentleman was referred with symptoms of memory fog, difficulty with concentration, mood disturbance and fatigue. His thyroid function tests had been stable but abnormal for over 8 years, with a normal FT4 between 17–19 pmol/l (12–22 pmol/l), FT3 5.6 pmol/l (3.1–6.8 pmol/l) and an elevated TSH between 12–16 mu/l (0.27–4.2 mu/l). He had no family history of thyroid disease. He was clinically euthyroid. His weight had remained ...

Rajesh Thakker is the May Professor of Medicine at the University of Oxford, UK. He received his medical degree from the University of Cambridge in 1980, and from 1981 to 1988 he undertook postgraduate clinical and research training at The Middlesex Hospital, The Hammersmith (Royal Postgraduate Medical School, RPMS), Hospital, and Northwick Park (MRC Clinical Research Centre) Hospital (London). In 1988, he was appoint...

Background: Coeliac disease has higher prevalence in children with diabetes mellitus than in the general population, and can have significant impact on quality of life causing faltering growth, prolonged fatigue and recurrent abdominal pain.Objective: To compare current practice in screening for coeliac disease in children with diabetes mellitus with recommended standards and to investigate the value of follow-up screening for coeliac disease in children...

An 81-year-old lady was referred with a 2-month history of frontal balding and hirsutism over the face and chest that required daily shaving. Her symptoms were progressing weekly. She did not have any history of hot flushes, voice changes or weight loss. Clinical examination revealed marked hirsutism over the face, neck, upper back, thorax and abdomen with a fullness in the right iliac fossa. She had a past medical history of hypertension and hypercholesterolemia.<p class=...

Screening for complications and associated conditions in children with type 1 diabetes is routinely performed in Diabetes Clinics. Though there are NICE recommendations screening tests, interpretation and management is varied as there is no strong evidence base in paediatrics. We conducted a survey across diabetes units to establish the prevailing practice.Method: Survey monkey questionnaire was sent out to clinicians who care for children with diabetes ...

A 35-year-old patient was referred to a tertiary referral unit for further investigation of severe watery diarrhea. Infectious agents had already been excluded. Biochemistry revealed a strikingly raised serum calcium concentration of 4.09 mmol/l (NR 2.1–2.65 mmol/l), chromogranin A was grossly elevated at 293 U/l (NR 2–18 U/l) and vasoactive intestinal peptide (VIP) was also raised at 130 pg/ml (NR 10–60 pg/ml). Computed tomography (CT) of the abdomen demonstrat...