Endocrine Abstracts

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...

Current systemic treatment options for patients with ACCs are far from being satisfactory. DNA damage/repair mechanisms, which involve e.g. ATM/ATR-signalling or RRM1/RRM2 encoded ribonucleotide reductase (RNR) activation commonly contribute to drug resistance. Moreover, also the regulation of RRM2b, the p53-induced alternative to RRM2, is of unclear importance for ACC. Upon extensive drug screening, including a large panel of classical chemotherapies (doxorubicin, etoposide, ...

MicroRNAs (miRNAs) are small non-coding RNAs that repress protein production post-transcriptionally. MiRNAs play crucial roles in metabolism, endocrine cells development and in processes altered in T2D, such as insulin secretion. MiR-125b controls proliferation, apoptosis and differentiation of various cell types, although its role in β-cells remains unclear. Recent studies show an association between high levels of circulating miR-125b and hyperglycaemia (HbA1c) in predi...

Introduction: Pancreatic β-cells control glucose homeostasis by secreting insulin in response to high glucose. MiRNAs regulate β-cell function and contribute to β-cell failure in type 2 diabetes. MiR-184 regulates β-cell compensatory expansion during pregnancy and obesity and its expression is reduced by glucose through unknown mechanisms. AMPK is a suggested target of antidiabetic drugs and an important energy sensor. Its β-cell-selective inactivation...

Background: Limited data exists on the hormonal mediators connecting metabolism and reproduction. Animal studies show that the reproductive hormone, kisspeptin, may also be important in metabolism. We investigated the effects of kisspeptin on human metabolism for the first time, to explore possible kisspeptin-mediated links between reproduction and metabolism.Methods: We performed intravenous glucose tolerance tests (IVGTTs) in 15 healthy men (age 25&#17...

Aim: Somatic growth results from the generation of new support and connective tissue. Since collagen is the major protein constituent of connective tissue, its synthesis must be a prerequisite for the normal growth. The aim of the study was to determine age-related reference intervals for P3NP, a collagen – formation marker in a group of normal height prepubertal children and to compare to IGF1 levels.Subjects: Forty-three prepubertal children, male...

Background: Elevated HbA1c, cardio-vascular and immune dysfunctions are common complications of poorly controlled type 2 diabetes (T2D), which can be improved by aerobic and resistance exercises, respectively. Therefore, effects of combined aerobic and resistance exercises in acute and chronic conditions might also have beneficial health outcomes and was investigated.Objective: Determine the effects of combined aerobic and resistance exercises on serum n...

Introduction: Nowadays is believed that primary aldosteronism (PA) is the most frequent cause of secondary hypertension and reaches 10% of whole hypertensive population. The activity of the mineralocorticoid hormone may be change by polymorphism of aldosterone synthase gene (CYP11B2) e.g. in promoter -344T/C region. Aim of this study was to find differences in baseline plasma aldosterone concentration (PAC), plasma renin activity (PRA), aldosterone – renin ratio (ARR) and...

It is not possible even with the most intensive conventional insulin regimens to control Type 1 diabetes well enough to normalise metabolic control or totally prevent complications. For this, a closed loop is needed, whereby circulating insulin levels are regulated on a moment to moment basis according to needs. Only pancreatic transplantation currently achieves this. Over 20000 whole pancreas transplants have been done worldwide and a one year graft survival rate of over 80% ...