Endocrine Abstracts

Medullar Thyroid cancer (MTC) is uncommon and a mixture of sporadic and familial. Surgery is the only curative treatment to date. Prophylactic surgery is required in the hereditary forms. No adjuvant post-operative treatment has demonstrated survival benefit. External radiotherapy may be used selectively. Calcitonin and CEA are used for post-operative monitoring of recurrence. At time of relapse consider whether there is a surgical option. The rate of doubling has prognostic v...

Neonatal hypocalcaemia (NH) is a well described phenomena with values of 2–2.25 mmol/l seen at 24 h of age after the cessation of transfer of transplancental calcium. Levels then increase to normal by 2 weeks of life. Calcium levels below 2.0 mmol/l in infants >1.5 kg is considered to be pathological hypocalcaemia. The role of vitamin D in NH is unclear and not well studied in both neonate and mother.Aim: To present the features of neonates with...

Aims: To identify any improvements in BMD on NICE recommended treatments in patients with osteoporosis. Also to identify how many patients were taking calcium and vitamin D.Methods: Retrospective audit of 31 patients who had a DEXA scan between June 2011 and October 2012 at Birmingham City Hospital. Patient information was gathered from electronic data base (Clinical Data Archive). Inclusion criteria was at least two DEXA scan T-scores results, ...

The National Diabetes Paediatric Audit Report (NDPAR) 2009–10 was published earlier this year. A total of 155 units submitted data to the report, representing an overall increase of 31 units since the 2008–9 audit. Whilst non-participation has been largely attributed to lack of resources and technical infrastructure, there are some concerns over the method of data collection and interpretation.Our unit entered the data by using the automatic ex...

Aim: To evaluate the outcomes of radioactive iodine therapy (RAI) in benign thyroid disease following implementation of 2007 Royal College of Physicians (RCP) guidelines in a large NHS foundation trust.Method: The medical records of patients referred for RAI therapy at Sheffield Teaching Hospitals (UK) between 2013 and 2015 were retrospectively reviewed. Patient data was collected from patients’ notes and electronic documents system. The data record...

ATR-101 is a selective Acyl-CoA: cholesterol acyltransferase 1 (ACAT1) inhibitor in development for the treatment of diseases of the adrenal cortex including rare endocrine diseases, such as congenital adrenal hyperplasia (CAH) and Cushing’s syndrome (CS), and in adrenocortical carcinoma (ACC). ATR-101 has been shown to inhibit adrenal steroidogenesis at low doses and cause apoptosis at high doses. To better understand the adrenal-specific effects of ATR-101, in vivo<...

Ectopic (or ‘illegitimate’) transcripts, which have been widely used to study disease-causing mutations when samples from the appropriate tissue cannot be obtained, are generally faithful representations of the normal tissue-specific counterparts. Here, we report the occurrence of ectopic transcripts of the hepatocyte nuclear factor-1 beta (HNF-1β) gene, mutations of which may result in maturity onset diabetes of the young type 5 (MODY5), the renal cysts ...

Multiple endocrine neoplasia type 1 (MEN1) is characterized by the combined occurrence of parathyroid, pancreatic islet and anterior pituitary tumours. Over 95% of MEN1 patients will have developed a manifestation of MEN1 by the age of forty years, and in >85% of patients, parathyroid tumours are the first to occur. In a previously reported Men1 knockout mouse model, parathyroid tumours occurred in less than 50% of Men1 heterozygous (Men1+/−...

Pituitary tumours occur in more than 40% of multiple endocrine neoplasia type 1 (MEN1) patients, and these are more aggressive and difficult to treat than those in non-MEN1 patients. Assessments of in vivo proliferation rates will be of importance in evaluating emerging treatments. We have used the uptake of the DNA nucleotide precursor, 5-bromo-2-deoxyuridine (BrdU), to assess proliferation rates of pituitary tumours in our Men1 knockout mouse model, which devel...

Background: Mutations in the UMOD gene, which encodes the Tamm-Horsfall Glycoprotein (THP), cause FJHN, an autosomal dominant disorder characterised by gout and renal failure. THP is a 640 amino acid glycosylphosphatidylinositol-anchored protein, containing three Epidermal Growth Factor (EGF)-like domains, a cysteine-rich region and a Zona Pelllucida (ZP) domain. THP is translated into the Endoplasmic Reticulum (ER) lumen, glycosylated in the Golgi apparatus, trafficked...