ACTA ENDOCRINOLOGICA (BUC)

Context. Oxidative products take part in various physiological processes and overproduction of oxidative products is involved in the etiology of many diseases. Objectives. We aimed to evaluate thiol-disulfide homeostasis (TDH); one of the oxidative stress parameters, in girls with premature thelarche (PT) and precocious puberty (PP). Design. This case-control study was conducted between January 2022 and July 2022. Subjects and Methods. TDH parameters, involving native thiol (NT), disulfide, and total thiol (TT), were evaluated in 39 girls with PT, 41 girls with PP and 46 healthy prepubertal girls. The correlations of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E2) levels with the TDH parameters were determined and ROC curve analysis was performed. Results. NT, TT and NT/TT ratio were higher in the PT and PP groups compared to the control group (p<0.01). Disulfide/NT ratio and disulfide/TT ratio were lower in the PT and PP groups compared to the control group (p<0.05). All the TDH values did not statistically differ between the PP and PT group (p>0.05). There was a positive correlation between LH level, FSH level, and NT level, TT level, NT/ TT ratio. The best parameter to discriminate PT or PT and control groups were NT and TT (p<0.01). Conclusion. TDH is altered in girls with PT and PP. NT and TT levels can be useful to discriminate prepubertal girls with lipomastia and girls with PP and PT in clinical practice. Further studies on larger cohorts of patients are required to clarify our results.

Background and aim. Hypertriglyceridemia is one of the leading causes of acute pancreatitis and is associated with increased morbidity and mortality. Today the recommended treatment options are fasting, hydration, if necessary antibiotics and there is not a standard recommendation to decrease triglycerides rapidly. Double Fıltratıon Plasmapheresis (DFPP) may be an option to decrease triglycerides rapidly but its effect on the disease course is unknown. Method. In the present study, we present results of four acute pancreatitis cases associated with hypertriglyceridemia treated with DFPP. All of the patients were diagnosed as acute pancreatitis at emergency room and no complications were observed in sessions. A 76.3% reduction in triglyceride levels was observed in one or two treatment sessions. Results and conclusion. DFPP is an effective and safe option to decrease triglyceride levels rapidly but further research is needed to show the effect on mortality and morbidity.

Background. There is no immunohistochemical study to show luteinizing hormone receptor (LHR), estrogen receptor (ER) and progesterone receptor (PR) in the pregnant Fallopian tubes (FT). Objective. To study LHR, ER, PR expression in FT containing an ectopic pregnancy (EP) and during the menstrual phase. Design. Thirty FT were obtained from women diagnosed with EP and twenty FT collected by hysterectomy performed for benign diseases not affecting the tubes were included in this study. Assessment of immunohistochemical expression staining LHR, ER, PR in epithelium, smooth muscle cell and blood vessel endothelium in FT containing an EP and during the different phases of menstrual cycle. Results. In ectopic pregnancy group we found LHR expression in epithelium in 30 cases, muscle cell in 28 cases, and endothelium in 9 cases in FT. In menstrual cycle group we noted LHR expression in FT in epithelium in all cases, muscle cell in 4 cases. Conclusion. There is a significant difference in the proportions of the existence of LH receptor immunostaining in the muscle cells for ectopic pregnancy group as compared to the menstrual cycle groups (p < 0.001). Our findings may suggest that the women who have increased LH receptors on muscle cells in Fallopian tubes are at increased risk for having external pregnancy.

Objectives. We aimed to determine lipodystrophy frequency according to insulin treatment regimen and insulin injection frequency in type 2 diabetic patients. Methods. A total of 345 type 2 diabetic patients under insulin treatment for at least one year were included in this cross-sectional study. Patients were examined for presence of lipodystrophy, insulin injection frequency and dosage. Lipodystrophy was evaluated with visual inspection and palpation of all injection sites. Patients were evaluated into three categories according to daily insulin dose requirement: Group 1= Standard-dose insulin users 0.6 U/ kg/day; Group 2= Medium-dose insulin users 0.61-1.9 U/kg/ day, Group 3= High-dose insulin users ≥2 U/kg/day. Results. Lipodystrophy was seen in 28% of the patients. Lipodystrophy was significantly higher in group 3. There was no significant difference between the groups in terms of lipodystrophy size. Duration of insulin treatment, daily total insulin dose, daily insulin dose per weight and number of daily insulin injections were significantly higher in the group with lipodystrophy. Daily injection number of long-acting, rapidly-acting analog and total insulin injections were significantly higher in group 3 than group 1 and 2. Number of daily insulin injections and lipodystrophy frequency were significantly higher in basalbolus insulin user group. Multivariate analysis showed that insulin injection frequency is the independent risk factor for lipodystrophy. Conclusion. Lipodystrophy is still a clinical problem in patients with high-dose insulin requirement and frequent insulin injections. Reducing daily insulin requirement and daily number of injections should be given priority in the management of patients to prevent the development of lipodystrophy.

Context. A persistently elevated thyroid stimulating hormone (TSH) level is a common clinical problem in primary hypothyroidism patients treated with levothyroxine (LT4). “Pseudomalabsorption”, which is characterized by poor adherence,should be considered in cases of refractory hypothyroidism after excluding other causes, such as malabsorption. Objective. We reviewed the features of the patients with persistently elevated TSH despite high-dose LT4 therapy. Design. Symptom evaluation, medications, comorbid diseases and physical examination features of five patients who applied to our outpatient clinic between 2016- 2019 and diagnosed with LT4 pseudomalabsorption were retrospectively analyzed. Subjects and methods. The LT4 loading test was performed with an oral dose of 1,000 μg LT4. Demographic parameters, BMI, thyroid function tests, laboratory parameters for malabsorption were recorded. Results. We observed at least two-fold increase of free thyroxine levels during the test, which was considered pseudomalabsorption. Euthyroidism was achieved in two patients by increasing the LT4 dosage and in one patient with a change in the preparation. TSH decreased significantly after being informed about compliance in one patient. Another one was given LT4 twice weekly, but TSH remained elevated because of nonadherence. Conclusion. The LT4 loading/absorption test is a valuable tool to confirm the diagnosis of pseudomalabsorption. Informing patients, changing the preparation, increasing the dose, supervised intake of daily/weekly LT4 forms are treatment options for managing these cases.

Purpose. The formation and accumulation of advanced glycation end products (AGEs) are enhanced with increased oxidative stress and inflammatory conditions. A hyperthyroid and hypothyroid state is associated with oxidative stress. This study aimed to evaluate skin AGE deposition, serum carboxymethyl-lysine (CML), and serum soluble receptor for AGEs (sRAGE) levels in hypothyroid and hyperthyroid patients. Methods. A total of 203 subjects were included in this cross-sectional study. After excluding diabetes mellitus, 103 newly diagnosed hypothyroid patients, 50 newly diagnosed hyperthyroid patients, and 50 control (euthyroid) subjects were enrolled. All tests were done before beginning the appropriate treatment. Accumulated AGEs in the skin collagen were measured by skin autofluorescence (SAF) using an AGE Reader. Results. SAF measurements were 1.82 ± 0.04, 1.80 ± 0.40, and 1.63 ± 0.30 arbitrary units for the hypothyroid, hyperthyroid, and euthyroid groups, respectively (p = 0.04). Serum CML levels were 8.2 ± 2.8, 10.2 ± 2.0, and 8.0 ± 3.3 ng/mL for the hypothyroid, hyperthyroid, and euthyroid groups, respectively (p = 0.01). sRAGE levels were similar between the groups. Serum thyroid-stimulating hormone and SAF measurements were positively correlated (r = 0.25, p = 0.02) in the hypothyroid group and negatively correlated in the hyperthyroid group (r = -0.36, p = 0.04). There was no correlation between CML and sRAGE levels. Conclusion. SAF measurements are increased in both hypo- and hyperthyroid normoglycemic patients. Serum CML levels are increased in hyperthyroid patients. Hypo and hyperthyroid states might be associated with acceleration of AGE accumulation and may have a long term effect on metabolic memory.

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.