Endocrine Abstracts

Silver-Russell syndrome (SRS) is characterised by low birth weight, short stature, and feeding difficulties in childhood, with marked leanness also described. There is limited information on body composition in older people with SRS.Objective: To evaluate body composition in adults with SRS. Methods: Participants aged ≥18 years with molecularly-confirmed SRS attended a single study appointment. Body composition was evaluated ...

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...

Background: Various components of metabolic syndrome (MS) significantly increase the risk of thyroid cancer (TC). Moreover, thyroid cancer survivors (TCS) are at increased risk of new components of MS (MSC). The role of thyroid function in this context has not yet been determined. We investigated changes in selected MSC and their association with thyroid function during a two-year follow-up among TCS.Materials and Methods: This retrospective, nested case...

Introduction: Gestational diabetes mellitus (GDM) is any degree of glucose intolerance developed during pregnancy1. Remote Blood Glucose Monitoring (BGM) may facilitate more effective communication between women with GDM and physicians.Objectives: To evaluate the effectiveness of remote BGM (using OneTouch Verio system) in the management of women with GDM during COVID-19 and assess the impact on delivery modality. Diabetes in pregnancy NICE gu...

Background: The late gestational surge in glucocorticoids is vital for the maturation of fetal organs in preparation for birth and survival during the neonatal period. Metabolic maturation of cardiomyocytes involves a switch in fuel substrate from glucose utilization to fatty acid (FA) oxidation. In fetal cardiomyocytes, glucocorticoids induce expression of Ppargc1a (encoding PGC1a, a master regulator of mitochondrial capacity). We hypothesized that glucocorticoids pr...

Background: Early glycaemic control improves long-term outcomes in children with Type I diabetes. The NICE target for children with T1DM is HbA1c ≤ 48 mmol/mol. 2018 data from our newly diagnosed patients (pre-QI) demonstrated mean HbA1c 50 mmol/mol at 3 months and 62 mmol/mol at 12 months.Aims and methods: Our aim is to improve average blood glucose levels at day 28 post diagnosis and achieve a median HbA1c of <48 mmol/mol at 3 and 12 months p...

Background: Impaired Insulin-like growth factor-1 (IGF-1) function is associated with obesity and hypertension, but the correlation of circulating IGF-1 with these conditions is weak. As a metabolite of IGF-1, the ratio of cGP/IGF-1 regulates IGF-1 bioavailability and may be a more accurate biomarker of IGF-1 function in obesity and hypertension.Methods: Using ELISA and HPLCms methodologies, we analysed plasma concentration of IGF-1, cGP and IGFBP-3 in 4...

Background: Atypical congenital hyperinsulinism in infancy (CHI-A) represent patients who generally present symptoms of hypoglycaemia later in the neonatal period, are poorly responsive to medical intervention and have no known genetic cause of disease. Our objective was to compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.Methods and materials: CHI tissues w...

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...

Background: In diffuse CHI (CHI-D) insulin release is uncontrolled due to mutations in the ABCC8/KCNJ11 genes. Increased rates of cell proliferation have also been reported, but the mechanisms responsible for this are unknown. We hypothesized that this may arise as a consequence of failure to terminate proliferation in the neonatal period. Here, we examined the proliferative index (PI) of islet cells in CHI-D patients and compared this with focal CHI (CHI-F) ...