Endocrine Abstracts

Introduction: Within the Bristol diabetes service, we recognised that we were failing to meet the needs of young people (YP), who reported feeling unprepared for transition and intimidated by the unknown entity of the adult service and changes in their diabetes management.Methods: We set up a multi-disciplinary steering group, including the paediatric and adult diabetes teams and a youth involvement worker, to develop an effective, multi-faceted transiti...

The past decade, epidemiological studies have associated disturbances of the biological clock, as occurs in shift work, with low bone mineral density and increased fracture risk. As a large part of the working population participates in shift work (e.g. almost 30% of workers in the U.S.), this demonstrates the need for further research on the risk of skeletal disorders associated with circadian disturbances. In this study, we aimed to investigate to what extent rhythmicity exi...

Background: Monogenic Diabetes is relatively rare, representing only 1–2% of total diabetes cases; nevertheless, it is often misdiagnosed primarily as Type 1 Diabetes, leading to unnecessary insulin therapy and delayed recognition of affected family members.Methods: Case report.Results: We describe a case of a young patient who presented with hyperglycemia in the absence of ketosis and following genetic testing, he proved to h...

Introduction: Hydrocortisone therapy in adrenal insufficiency and medical management of Cushing’s syndrome requires accurate monitoring of glucocorticoid status. Currently, this necessitates admitting patients to hospital for serial measurements of serum cortisol. From previous studies in Cushing’s, the goal of medical therapy is a mean (based on five samples) serum cortisol of 150–300 nmol/l, which is known to equate to a normal cortisol production rate. Saliva...

Background: The urinary steroid metabolome is considered the fingerprint of adrenal gland function. Novel methods using mass spectrometry profiling have seen the advent of a new era for metabolomics with powerful implications for both diagnostics and discovery. Its interpretation is difficult and performed by few specialists with the expertise to do so. This makes it a relatively inaccessible tool for the majority of Clinical Endocrinologists.Objective: ...

Autosomal dominant hypocalcaemia type 1 (ADH1) is a systemic disorder of calcium homeostasis caused by gain-of-function mutations of the calcium-sensing receptor (CaSR). ADH1 may lead to symptomatic hypocalcaemia, inappropriately low parathyroid hormone (PTH) concentrations and hypercalciuria. Active vitamin D metabolites are the mainstay of treatment for symptomatic ADH1 patients, however their use predisposes to nephrocalcinosis, nephrolithiasis and renal impairment. Calcily...

Objective: Recent studies of perimenopausal women suggest that follicle stimulating hormone (FSH) levels may be associated with atherosclerosis, independent of actions of estradiol (E2). Whether FSH is related to atherosclerosis in older postmenopausal women, who have completed the menopausal transition, remains unknown.Approach: We assessed the relation of FSH and E2 levels with carotid artery intima-media thickness (IMT) among 588...

Context: The syndrome of inappropriate antidiuresis(SIAD) is the commonest cause of hyponatraemia. Data on the aetiology of SIAD is mainly derived from retrospective studies, often with poor ascertainment of minimum criteria for correct diagnosis. Although central adrenal insufficiency(CAI) is known to cause euvolaemic hyponatraemia, the incidence of undiagnosed CAI in SIAD is unknown.Objective: To establish the incidence of CAI in SIAD.<p class="abs...

Background: Harrington et al.1 suggest that basal LH of ≥0.3 IU/l as measured by ICMA (Immulite 2500) has 100% specificity and 90.5% sensitivity in identifying progressive central precocious puberty (CPP).Aims: To examine the utility of basal LH measured with the DELFIA assay for identifying CPP in girls.Methods: All girls under age 9 years (median 7.3 years) investigated for precocious puberty with a GnRH...

Recently, rare loss-of-function mutations of melanocortin-2-receptor accessory protein 2 (MRAP2) have been associated with severe, early-onset obesity in humans. In addition, whole body deletion and targeted brain specific deletion of the Mrap2 gene resulted in severe obesity in mice. In vitro data have shown Mrap2 interaction with the melanocortin-4-receptor (MC4R) affecting receptor signalling as a consequence. However, the mechanism by which Mrap2...