Endocrine Abstracts

The MRC currently operates a ‘highlight notice’ in systems biology for medicine. Highlight notices are requests for applications through the normal response mode route – they represent a priority but do not have a specific budget attached. This notice is of considerable relevance to endocrinology research, as will be discussed at the March meeting. MRC-funded endocrinology researchers are already beginning to use systems approaches with some success, but there i...

Background: HbA1c is an important indicator of long-term glycaemic control in CYP with established diabetes mellitus (DM). The WHO recommends that diagnosis of DM requires measurement of blood glucose, and that HbA1c is not validated as a diagnostic test in CYP. NICE guidance recommends any child with suspected Type 1 DM should have a POC BG test and same day referral to secondary care. Requesting HbA1c in primary care may delay diagnosis of Type 1 DM, leading to potentially l...

Hypercalcaemia is a commonly encountered problem. Though primary hyperparathyroidism and malignancy account for greater than 90% of cases other rare causes need to be considered. We present an unusual but significant cause of hypercalcaemia.Of 87-year-old gentleman presented with acute abdominal pain and a severe hypercalcaemia with corrected serum calcium of 4.36 mmol/l (2.1–2.6). Significant dehydration was associated with acute renal failure (Tab...

Context: Cushing’s disease (CD) results from the release of high levels of adrenocorticotrophic hormone (ACTH) from a pituitary adenoma. Increased ACTH secretion stimulates excess cortisol production, causing weight gain, hypertension, diabetes and depression. The only curative treatment is transsphenoidal surgery, but the rate of recurrence is high and there is a lack of suitable medical therapies. RNA-interference is a mechanism of post-transcriptional gene silencing th...

Approximately 25% of the reported cases of MTC are familial. Familial MTC can occur as part of MEN2-syndrome or as familial MTC alone (fMTC) defined as more than ten carriers in the kindred, or multiple carriers or affected members over the age of 50 with an adequate medical history excluding pheochromocytoma. The vast majority of MEN2 families (98%), as well as fMTC kindreds (88%) harbour a RET mutation. In MEN2A, mutations at codon-634 (exon-11) account for 85% of all mutati...

DICER1 is a microRNA processing-RNase III-type endoribonuclease and is crucial for embryogenesis and early development. Nearly 50 different heterozygous germ-line DICER1 mutations have been reported world-wide in individuals who developed, as children or young adults, pleuropulmonary blastoma, cystic nephroma, ovarian sex cord stromal tumors (especially Sertoli–Leydig cell tumor), multi-nodular goiter, embryonal rhabdomyosarcoma (of cervix and other typical sites), Wilms ...

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...