ACTA ENDOCRINOLOGICA (BUC)

Recent studies indicate a relatively high prevalence of hypogonadism with low gonadotropin levels, in adult male patients with type 2 diabetes (T2DM).\r\nObjective.In this study we investigate the possibility of a predisposition to hypogonadism and its relationship with\r\ninsulin resistance and leptin levels in adolescent and young males with one or both diabetic parents.\r\nDesign. It was a cross-sectional study conducted on male subjects between 15-25 y of age.\r\nSubjects & Methods. Groups of subjects with one diabetic parent (n=30) and with both diabetic parents (n=30) were\r\ncompared with an equal number of age matched offspring of healthy non diabetic parents (n=30). Fasting blood glucose,\r\nserum insulin, leptin, FSH, LH and testosterone were measured.\r\nResults. Mean fasting insulin, and insulin resistance as assessed by HOMA-IR, were significantly higher (p<0.05) in offspring of both diabetic parents and mean serum leptin\r\nlevels were significantly higher (p<0.001) in both groups of offspring of diabetic parents compared to that of the control group. Whereas serum testosterone concentrations\r\n(p<0.05) were lower in both groups of offspring with diabetic parents, serum LH was higher (p<0.05) in offspring of both diabetic parents, as compared to control group. Also, serum testosterone levels were shown to be inversely related to serum leptin in subjects with both diabetic parents.\r\nConclusion.The present study suggests evidence of hypoandrogenesis in subjects with a family history of T2DM and the possibility of a direct effect of factors such as\r\nhyperleptinemia and hyperinsulinemia on androgenesis at an early age, independent of changes in pituitary function.

Context. Impaired flow mediated dilatation (FMD) and increased carotid intima media thickness (CIMT) are the antecedent forms of atherosclerosis. Objective. The aim of this study was to evaluate vascular structural and functional changes in patients with asymptomatic primary hyperparathyroidism (APHPT), and whether biochemical alterations, related with PHPT and oxidative stress marker serum advanced oxidation protein products (AOPPs), may have influence on vascular alterations. Design. This is a cross sectional clinical study. Subject and Methods: Thirty-four patients with APHPT and 29 sex- and age and cardiovascular risk factors matched control cases were included in this study. Endothelial function was evaluated by FMD of the brachial artery; CIMT was measured by ultrasonography; in addition serum AOPPs and biochemical parameters were determined. Results. Serum Ca levels were higher in the patient group [10.93±0.60mg/dL vs. 9.45±0.31; p<0.001]. FMD measurement was significantly lower in patients group [0.07 (0.01-0.26) % vs. 0.14 (0.04-0.22) %; p=0.01]. CIMT measurements were comparable between the groups [52 (35- 69) mm vs. 56 (38-70) mm; p=0.821]. AOPPs levels were significantly higher in the patients [136.43 (55.14-1352) mmol/L vs. 84 (53.18-595.48) mmol/L; p=0.026]. There were significant negative correlations between FMD and serum Ca (r=–0.339, p<0.001); and serum AOPPs levels (r=–0.275, p<0.005). Serum Ca (p=0.007, β=–0.353) and AOPPs (p=0.024, β=–0.243) levels and hyperlipidemia (p=0.024, β=–0.288) were the predictors of FMD. Conclusions. Vascular endothelial function is impaired in patients with APHPT. Hypercalcemia, increased oxidative stress and hyperlipidemia may have role in the pathogenesis of endothelial dysfunction in patients with APHPT.

Context. Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes. Objective. The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort. Design. The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center. Subjects and Methods. Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007. Results. One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 “hot and warm” of unknown significance variants were found in fourteen MODY and fifteen non- MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases. Conclusions. Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.