Endocrine Abstracts

Aims and objectives: Poor attendance in clinics remains a concern shared by diabetes services nationally and internationally. We surveyed our children’s diabetes service users to identify local reasons for non-attendance. We used the opportunity to seek feedback from service users about service design.Study population group: The group included parents/carers of children and young people who use children’s diabetes service delivered by Walsall H...

Introduction: Slimming World on Referral (SWoR) is a well-established partnership with NHS and local government commissioners, which provides a cost-effective, 12-week, tier-2 weight management intervention for patients, some of whom may meet NICE criteria for tier 3 services. This analysis examines weight loss outcomes by baseline BMI at 3, 6 and 12 months.Methods: Referrals to Slimming World were made through 80 locally-commissioned schemes across Engl...

It is now recognized that vitamin D influences the innate immune system and recent studies have highlighted the importance of local synthesis of 1,25-dihydroxyvitamin D (1,25D) for these responses. Production of 1,25D from 25-hydroxvitamin D (25D) is catalyzed by 25-hydroxyvitamin D 1α-hydroxylase (CYP27B1; 1α-OHase). Vitamin D is metabolized by 24-hydroxylase (CYP24A1; 24-OHase). A key part of the innate immune response is pathogen recognition by the toll-like recep...

We have recently demonstrated expression of a functional calcium sensing receptor (CaSR) in human aortic smooth muscle cells (HAoSMC) and human arteries and demonstrated a correlation between CaSR expression and medial calcification (a major cause of cardiovascular mortality in chronic kidney disease). Apoptosis of vascular SMC occurs early in the development of calcification and apoptotic bodies accumulate calcium. Here, we have examined CaSR-mediated signalling pathways in H...

Fleet Phospho-soda is frequently used to prepare bowel for gastrointestinal investigations or surgery. We report an 85 year old male who had severe life threatening hypocalcemia after using fleet. He was admitted for bowel preparation for colonoscopy due to altered bowel habits, weight loss and anaemia. Clinical examination was unremarkable. His investigations showed Hb-12.0 gm/dl, normal renal function (Serum creatinine -105 μmol/l), normal liver function but for a raise...

Alterations in sodium reabsorption in collecting duct epithelium can have severe implications for the normal function of the nephron and may precipitate the development of secondary hypertension. One of the principal protein kinases involved in sodium transport in the nephron is the serum and glucocorticoid regulated kinase (SGK1) that mediates translocation and insertion of the epithelial sodium channel (ENaC) into the plasma membrane. SGK1 appears to be increased in the kidn...

Background: Sotos syndrome is an uncommon condition characterised by rapid growth, large body size and acromegaloid facies.There is limited data on metabolic abnormalities in Sotos syndrome.Aims: We investigated insulin sensitivity and secretion rates in a 22 year old girl with Sotos syndrome, prompted by the observation of a flat glucose response after an oral glucose challenge.Methods: Glucose tolerance was assessed with a 75g 2-h oral glucose tolerance test (OGTT), ...

Background: Improved management for patients with cyanotic congenital heart disease (CCHD) has led to prolonged lifespan and an increase in patients with CCHD presenting with pheochromocytoma and paraganglioma (PPGL) has been noted. PPGL susceptibility genes including VHL, SDH(x), FH, EPAS1 have been connected to a common signaling pathway that activates hypoxia-inducible factors. 4 of 5 patients with CCHD and PPGL were previously noted to have a somatic gain-of-function mutat...

Case report: A 52-year-old woman developed painful anterior neck swelling seven days after receiving the first COVID-19 vaccine AstraZeneca (AZ). Investigations showed TSH 0.14 mIU/l, CRP 34 mg/l and TRAb 0.3 IU/l. A neck Doppler ultrasound scan on day 15 showed features of thyroiditis. On day 21, she was hyperthyroid with TSH <0.02 mIU/l and free T4 70.3 pmol/l. COVID-19 test was negative, and she was advised to start Carbimazole and propranolol but took only the beta-blo...

Case history: Two Syrian refugee siblings aged 21 and 20 years, were referred. Ambiguous genitalia had been identified at birth and had been raised as males. They wished a more masculine habitus and had concerns regarding their fertility. The elder sibling had ambiguous genitalia at birth and a 46,XX karyotype. Long-term steroid treatment had been initiated and corrective genital surgery performed at 9 months of age. For unknown reasons, steroids were stopped after 9 years. He...