Endocrine Abstracts

Regulation of the epithelial sodium channel (ENaC) trafficking in cells of the distal nephron is of major importance in the control of sodium reabsorption. Mutations in the genes compromising the molecular pathway by which corticosteroids regulate ENaC sodium reabsorption cause several hypertensive syndromes in humans. The molecular events underpinning ENaC exo- and endocytosis and the hormonal effects on ENaC trafficking are poorly understood. To start elucidating these pathw...

Aims: Previous studies of acromegaly have suggested a prevalence of 60 per million and an incidence of 3-4 per million per year. We have performed a population-based survey to ascertain prevalence and incidence of acromegaly, and biochemical outcomes to treatment. Methods: We have reviewed case notes of all patients with acromegaly under the care of the endocrine unit (referral population of 700,000). Growth hormone (GH) and IGF-1 levels at follow-up were examined. Results: Th...

Bone mineral density (BMD) is a highly heritable trait. We sought to investigate site and gender specificity of BMD inheritance in general pedigrees.Probands with primary osteoporosis and low BMD relative to an age- and sex- matched cohort (z-score <-2.0 at either lumbar spine (LS) or femoral neck (FN)) were identified from the Nuffield Orthopaedic Centre (Oxford UK) (45 male, 102 female). All available first- and second-degree relatives were recrui...

Thyroid eye disease usually occurs in patients with graves'hyperthyroidism although 5-10% of patients are euthyroid or are hypothyroid with positve TSH receptor binding antibodies. We describe a patient with primary hypothyroidism for 14 years prior to the onset of severe thyroid eye disease.A 61 year old lady with thyroid opthalmopathy was seen in the eye clinic.Previous history included diet controlled diabetes and primary hypothyroidism, adequately r...

The effects of N-terminal parathyroid hormone (PTH) and parathyroid hormone related peptides (PTHrP) on the spontaneous contractility of 4 days pregnant mouse uterus in vitro were investigated. The myometrial tissue contracted vigorously for several hours, when incubated in organ baths in De Jalon's solution. PTH(1-34) and PTHrP(1-40) caused similar dose related inhibitions of contractions over a dose range of 10-9 to 10-7 M. C terminal PTHrP(107-139) was devoid of this...

The foetus of a mother with previous or current Graves disease is at risk of developing thyrotoxicosis. The mother can act as a bioassay to diagnose foetal thyrotoxicosis. We describe the difficulties in managing foetal thyrotoxicosis in a mother who could not act as a bioassay because of previous Graves disease treated by total thyroidectomy.A 35year old woman fell pregnant 3 months after a total thyroidectomy for relapsed Graves disease and concomitant...

The Hydroxycarboxylic Acid Receptor 1 (HCAR1) is a Gαi/o-coupled GPCR known to be activated by both L- and D-lactate; metabolites produced by gut microbiota and anaerobic metabolism. Elevated D-lactate levels are indicative of dysbiosis and inflammatory bowel disease. As lactate can be transported into cells, it has the potential to activate HCAR1 at the plasma membrane and within intracellular locations resulting in diversified responses. Whether HCAR1 signalling is spat...

Introduction: Hybrid closed-loop system (HCS) in Type 1 diabetes (T1D) management uses an automated algorithm to adjust basal insulin and administer correction doses to maintain glucose homeostasis. We have more children with HbA1c <58 mmol/mol. We aim to investigate if HCS contributed to this improvement.Methods: We identified TID children who started on HCS in our hospital from the year 2019–2023. Our HCS are ...

Kyphosis and scoliosis are common spinal disorders that lead to significant morbidity in childhood, adolescence and adulthood. Familial and twin studies have implicated a genetic involvement, although the causative genes remain to be identified. To facilitate these studies, we investigated 12-week-old progeny of mice treated with the chemical mutagen N-ethyl-N-nitrosourea (ENU) using phenotypic assessments that included dysmorphology, radiography and dual-energy ...

Objectives: The Department of Health introduced a Best Practice Tariff (BPT) to finance Paediatric Diabetes Services in England, in response to variation in service provision and outcome. The tariff became mandatory in April 2013 and depends on achievement of 13 quality standards (QS). The West Midlands (WM) Region covers an area of 5020 square miles, where 2700 Children with Diabetes receive care from 15 Hospital Trusts who are members of the Regional Paediatric Diabetes Netw...