Endocrine Abstracts

Primary hyperparathyroidism causing symptomatic hypercalcaemia is often encountered in clinical practice. However, hyperparathyroid crisis is a rare and potentially fatal presentation of primary hyperparathyroidism characterised by profoundly symptomatic hypercalcaemia, altered mental status, and cardiac and renal dysfunction. Recognising the need for rapidly controlling hypercalcaemia with aggressive medical therapy and definitive management with early parathyroidectomy are n...

Introduction: LAN, a somatostatin analogue, is a common first-line treatment for NETs. LAN comes as a pre-filled, ready-to-use syringe, administered every 4 weeks. In the UK, patients may receive LAN at home. The aim of PREF-NET was to generate real-world evidence describing patient’s experience of LAN administered in homecare and hospital settings, and the associated impact of treatment setting on other areas of patients’ lives.Methods: PREF-N...

Clinical Endocrinology, 2018, 88(1): 21–29 (DOI: https://doi.org/10.1111/cen.13447)...

The identification and characterisation of unique gene profiles expressed in specific adipose tissue depots around the body could provide novel insights on fat development.We report a comprehensive analysis of transcriptome from the five major (epicardial, pericardial, perirenal, sternal and omental) adipose depots from one week old sheep. This study also provides an integrated view of the preservation and differences between mitochondrial gene co-expres...

Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal...

Turner Syndrome (TS) affects 1:2500 females and is caused by the partial or complete loss of one X chromosome. About 80% of women with TS experience primary amenorrhea and therefore the only option for fertility treatment is ovum donation (OD). The remaining 20% may have the opportunity for a spontaneous pregnancy. Pregnancy in women with TS has been associated with excess obstetric risk such as miscarriage and hypertension. Maternal mortality has been estimated to be 2% risk ...

Glucocorticoid (Gc) excess, either endogenously produced (Cushing’s syndrome) or as a result of exogenous steroid treatment, can cause metabolic disorders such as obesity and hyperglycaemia. The contribution of centrally acting corticosterone in the development of these metabolic disorders is unknown. Gcs regulate the anorexigenic and orexigenic neuropeptides (POMC and AgRP) within the arcuate nucleus of the hypothalamus to modulate energy balance. This study investigated...

5α reductases 1 and 2 (SRD5A1 and SRD5A2) metabolise cortisol into inactive 5α-dihydrocortisol contributing to the regulation of cortisol availability in addition to their established role in the generation of dihydrotestosterone from testosterone. Dutasteride and finasteride are commonly prescribed to patients with benign prostatic hyperplasia but their potential metabolic effects have only recently been identified. Dutasteride inhibits both SRD5A1and SRD5A2 whilst ...

The classical features of Silver-Russell syndrome (SRS) appear to become less pronounced with increasing age. Small-for-gestational-age (SGA) birth is associated with adult metabolic syndrome. SRS is associated with SGA but the adult sequelae and long-term effects of childhood growth hormone (GH) treatment are unclear.Objective: To determine the phenotype and cardio-metabolic profile in older individuals with SRS and compare individuals previously untrea...

Background: During 2017–2018 the diabetic team at our Foundation Trust participated in the RCPCH diabetes quality improvement collaborative to support work in reducing the mean HbA1c of our patient cohort. It is widely acknowledged that a consistent approach is vital in working towards HbA1c targets. One area of focus of our quality improvement work was to standardise the management of hypoglycaemia. As a team we decided to follow the BSPED hypoglycaemia guideline (2016) ...