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Introduction. Biotin treatment causes false-low or false-high results in some immunoassays methods. This phenomenon is called as biotin interference. In the present article, a seven-month-old male, with renal failure and laboratory hyperthyroidism due to biotin interference is presented. Case report. High free T4 (fT4), free T3 (fT3), antithyroid peroxidase antibody (anti-TPO), anti-thyroglobulin antibody (anti-TG) and low thyroid stimulating hormone (TSH) levels were detected in a seven-month-old male patient who has metabolic acidosis, renal failure, and suspected of metabolic disease. Anti-thyroid drug therapy was started. However, when he was re-evaluated due to the absence of euthyroidism with anti-thyroid therapy (methimazole 0.8 mg/kg/day), it was found that the patient had been given 20 mg/day biotin for acidosis for two months. Biotin interference was considered in hormone measurement. Thyroid function tests were found to be normal 12 days after discontinuation of biotin therapy. Conclusion. Immunoassay measurements which use biotin should be done 2-7days after the last dose of biotin in patients under biotin treatment, but this time may need be much longer in renal failure patients. During this period or if the biotin therapy cannot be stopped, alternative methods should be preferred for analysis. [ABSTRACT FROM AUTHOR]

Purpose: Patients with type 1 diabetes mellitus (T1DM) are insulin-dependent from diagnosis. Both the individual and their immediate circle are at risk for psychiatric morbidity. We aimed to compare the anxiety, stress, and social support levels of adult women with a diagnosis of T1DM and adult women with a child diagnosed with T1DM. Besides, the study intended to examine two groups' stress and anxiety factors., Methods: The data were collected using the Sociodemographic Data Form, State-Trait Anxiety Inventory, Perceived Stress Scale, Multidimensional Scale of Perceived Social Support. Sixty-three women participated in the study., Results: There was no difference between the groups regarding anxiety, stress, and perceived social support score averages (p > 0.05 each). However, clinically significant state anxiety was higher in the group of mothers (χ²=4.234 df = 1 p = 0.040). In women with T1DM, higher education was associated with lower stress, lower state, and lower trait anxiety (r=-0.455 p = 0.004, r=-0.428 p = 0.007, r=-0.317 p = 0.049); higher numbers of insulin injections were associated with higher state anxiety (r = 0.368 p = 0.021), social support was associated with lower stress and lower trait anxiety (r=-0.478 p = 0.002, r = 0.449 p = 0.004). In mothers of diabetic children, the increase in the child's HbA1c level was associated with an increase in the mother's state anxiety (r = 0.433 p = 0.035); social support was associated with lower trait anxiety (r=-0.421 p = 0.040)., Conclusion: Caring for a child with T1DM was stressful and anxiety-provoking as having T1DM. Interventions including social support, may benefit mental health in mothers of diabetic children and women with T1DM., Competing Interests: Conflict of interest disclosureThe authors of the present study declare that there is no conflict of interest., (© The Author(s), under exclusive licence to Tehran University of Medical Sciences 2022. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Introduction: There have been some significant changes regarding healthcare utilization during the COVID-19 pandemic. Majority of the reports about the impact of the COVID-19 pandemic on diabetes care are from the first wave of the pandemic. We aim to evaluate the potential effects of the COVID-19 pandemic on the severity of diabetic ketoacidosis (DKA) and new onset Type 1 diabetes presenting with DKA, and also evaluate children with DKA and acute COVID-19 infection., Methods: This is a retrospective multi-center study among 997 children and adolescents with type 1 diabetes who were admitted with DKA to 27 pediatric intensive care units in Turkey between the first year of pandemic and pre-pandemic year., Results: The percentage of children with new-onset Type 1 diabetes presenting with DKA was higher during the COVID-19 pandemic ( p < 0.0001). The incidence of severe DKA was also higher during the COVID-19 pandemic ( p < 0.0001) and also higher among children with new onset Type 1 diabetes ( p < 0.0001). HbA1c levels, duration of insulin infusion, and length of PICU stay were significantly higher/longer during the pandemic period. Eleven patients tested positive for SARS-CoV-2, eight were positive for new onset Type 1 diabetes, and nine tested positive for severe DKA at admission., Discussion: The frequency of new onset of Type 1 diabetes and severe cases among children with DKA during the first year of the COVID-19 pandemic. Furthermore, the cause of the increased severe presentation might be related to restrictions related to the pandemic; however, need to evaluate the potential effects of SARS-CoV-2 on the increased percentage of new onset Type 1 diabetes., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Kiral, Kirel, Havan, Keskin, Karaoglan, Yildirim, Kangin, Talay, Urun, Altug, Kesici, Tufan, Kacmaz, Bozan, Azapagasi, Uysal Yazici, Ozturk, Yesilbas, Karaguzel, Kaya, Barlas, Duyu, Boyraz, Sevketoglu, Akcay, Hancili, Guven, Dursun, Ulgen Tekerek, Ozcifci, Yazici, Turanli, Kendirli, Kahveci, Yetimakman, Citak, Şik, Bingol, Aygun, Durak, Yilmaz, Bugrul, Sari, Tekguç, Albayrak, Yener, Agin, Soydan, Yildizdas, Dilek, Yalindag, Incekoy-Girgin, Alacakir, Tutunculer, Arslanaoglu, Aydin, Bilgin, Simsek and Dinleyici.)

Aim: Obesity, insulin resistance, and hyperlipidemia have been shown as risk factors for non-alcoholic fatty liver disease. In this study, the association between lipid and lipoprotein metabolism abnormalities and the presence of non-alcoholic fatty liver disease was investigated in patients with obesity., Material and Methods: In this study, the clinical, laboratory and imaging findings of 357 children and adolescent patients (199 girls and 158 boys) aged 2-18 years who were diagnosed as having obesity between 2013 and 2018 were retrospectively analyzed. The clinical and laboratory features of the patients who were diagnosed as having non-alcoholic fatty liver disease using ultrasonography were compared with patients who did not have non-alcoholic fatty liver disease. All lipid and lipoprotein levels were defined as hypo-, normo- and hyperlipidemic in comparison with the reference values according to age and sex., Results: The frequency of non-alcoholic fatty liver disease was 44.5% in the entire study group and was higher in males (p<0.05). The body weight, body mass index, alanine aminotransferase, glucose, insulin, non-high-density lipoprotein-cholesterol, and HOMA-IR scores were found to be higher in the patients with non-alcoholic fatty liver disease, whereas the high-density lipoprotein-cholesterol level was lower (p<0.05). There was no difference in the frequency of non-alcoholic fatty liver disease among the patients with low, normal, and high total cholesterol, triglyceride and low-density lipoprotein-cholesterol levels (p>0.05). The frequency of lipid metabolism disorder (hypolipidemia and/or hyperlipidemia) was found as 77.5% in all patients., Conclusion: Non-alcoholic liver disease and lipid metabolism disorders are common in children and adolescents with obesity. The frequency of non-alcoholic fatty liver disease in hypolipidemic, normolipidemic, and hyperlipidemic patients was not different. This finding indicated that the increase in the amount of body fatty tissue and insulin resistance were more important risk factors in the development of non-alcoholic fatty liver disease., Competing Interests: Conflict of Interest: The authors have no conflicts of interest to declare., (Copyright: © 2020 Turkish Archives of Pediatrics.)

Context: The clinical effects of classical 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) deficiency are insufficiently defined due to a limited number of published cases., Objective: To evaluate an integrated steroid metabolome and the short- and long-term clinical features of 3βHSD2 deficiency., Design: Multicenter, cross-sectional study., Setting: Nine tertiary pediatric endocrinology clinics across Turkey., Patients: Children with clinical diagnosis of 3βHSD2 deficiency., Main Outcome Measures: Clinical manifestations, genotype-phenotype-metabolomic relations. A structured questionnaire was used to evaluate the data of patients with clinical 3βHSD2 deficiency. Genetic analysis of HSD3B2 was performed using Sanger sequencing. Novel HSD3B2 mutations were studied in vitro. Nineteen plasma adrenal steroids were measured using LC-MS/MS., Results: Eleven homozygous HSD3B2 mutations (6 novel) were identified in 31 children (19 male/12 female; mean age: 6.6 ± 5.1 yrs). The patients with homozygous pathogenic HSD3B2 missense variants of > 5% of wild type 3βHSD2 activity in vitro had a non-salt-losing clinical phenotype. Ambiguous genitalia was an invariable feature of all genetic males, whereas only 1 of 12 female patients presented with virilized genitalia. Premature pubarche was observed in 78% of patients. In adolescence, menstrual irregularities and polycystic ovaries in females and adrenal rest tumors and gonadal failure in males were observed., Conclusions: Genetically-documented 3βHSD2 deficiency includes salt-losing and non-salt-losing clinical phenotypes. Spared mineralocorticoid function and unvirilized genitalia in females may lead to misdiagnosis and underestimation of the frequency of 3βHSD2 deficiency. High baseline 17OHPreg to cortisol ratio and low 11-oxyandrogen concentrations by LC-MS/MS unequivocally identifies patients with 3βHSD2 deficiency., (© Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Background: Chronic disease of children can cause changes in the health-related quality of life (HrQoL) of the family members., Aims: To evaluate the HrQoL of healthy siblings of children with chronic disease., Study Design: Cross-sectional study., Methods: The study included healthy sibling of children with chronic disease (cerebral palsy, epilepsy, diabetes, celiac disease, hematologic/oncologic disease, or asthma) and healthy sibling of healthy children to evaluate the quality of life. We used the Pediatric Quality of Life Inventory questionnaire; the physical health and psychosocial health scores were calculated using the responses of the sibling and parent. The primary endpoint was the comparison of HrQoL scores of healthy siblings of children with chronic disease and that of healthy siblings of healthy children., Results: This study included a respective healthy sibling of 191 children with chronic disease and healthy sibling of 100 healthy children. The physical health, psychosocial health, and total health scores of healthy siblings of children with chronic disease were significantly lower than that of healthy siblings of healthy children (p<0.001). Among the healthy siblings of children with chronic disease, the lowest psychosocial health score was found in the siblings of children with cerebral palsy, hematologic/oncologic disease, and asthma (p<0.001). The global impact on the quality of life for healthy siblings of children with chronic disease was significantly higher in the self-report of the children than that of the parents (30.4% versus 15.1%, p<0.05)., Conclusion: Most healthy siblings of children with chronic disease are physically and psychosocially affected and there is low parental awareness of this condition. This can increase the risk of emotional neglect and abuse of these children. Therefore, special support programs are needed for the families of children with chronic diseases.

Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. In all, eight cases have been reported, with the age at onset of diabetes in the first 2 weeks of life. Here we report two individuals born to double first cousins in whom intestinal atresias consistent with a diagnosis of Mitchell-Riley syndrome were diagnosed at birth, but in whom diabetes did not present until the ages of 3 and 6 years. Novel compound heterozygous RFX6 nonsense mutations (p.Arg726X/p.Arg866X) were identified at the 3' end of the gene. The later onset of diabetes in these patients may be due to incomplete inactivation of RFX6. Genetic testing for RFX6 mutations should be considered in patients presenting with intestinal atresias in the absence of neonatal diabetes.

Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH., Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH., Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency., Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.

Objective: Visfatin, an adipokine, has insulin-mimetic effects. The main determinants of both the production and the physiologic role of visfatin are still unclear. The aim of this study is to determine the relation of serum visfatin to adiposity and glucose metabolism., Methods: 40 pubertal adolescents (20 females, 20 males; age range: 9-17 years) with exogenous obesity and 20 age- and sex-matched healthy adolescents (10 females, 10 males) were enrolled in the study. Oral glucose tolerance test (OGTT) was performed in the obese group. Serum glucose, insulin and visfatin levels were analyzed in the fasting state in the controls and at 0, 60 and 120 minutes during the OGTT in the obese group., Results: The obese group had higher serum visfatin levels than the control group [11.6 (3.3-26) ng/mL vs. 7.5 (3.3-10.5) ng/mL, p<0.001[. Visfatin levels were correlated positively with body mass index, waist/hip ratio, insulin, and homeostasis model assessment for insulin resistance and negatively with glucose/insulin ratio in the combined group (obese subjects plus controls). Visfatin levels were essentially similar in obese subjects with and without insulin resistance (p>0.05). Serum visfatin levels did not change at 60 and 120 minutes of the OGTT compared to the baseline levels (p>0.05)., Conclusions: Serum visfatin levels are elevated in obese adolescents and do not change with acute changes in glucose metabolism. Visfatin levels are related with adiposity and glucose metabolism parameters. However, the role and contribution of adiposity and glucose metabolism to the circulating visfatin levels in obese patients remain to be explored.

Lead levels were measured in blood samples of 99 adults, 180 children and 143 pregnant women living in Eskişehir, an urban area in Turkey. One hundred and twenty 120 cord blood and 93 breast-milk samples were also obtained. Mean lead level in blood of adults, children, pregnants, cord blood and in breast-milk samples were 3.13 +/- 1.4 microg/dl, 3.56 +/- 1.7 microg/dl, 2.8 +/- 1.5 microg/dl, 1.65 +/- 1.4 microg/dl and 2.34 +/- 1 microg/L, respectively. It was higher in men than in women in adults (p<0.05) and in iron-deficient children than in those not deficient (p<0.01), and was negatively correlated with body weight (BW) and hemoglobin (Hb) in children (p<0.05 for both). Maternal lead level was strongly related with cord blood and breast-milk lead contents (p<0.001, p<0.0001, respectively). The lead exposure in this region is much lower than the critical level defined for lead poisoning as >10 microg/dl by the Centers for Disease Control and Prevention iron deficiency poor nutrition are the risk factors to lead exposure in children.

We have attempted to investigate the dysplastic changes in the hematopoietic system associated with juvenile rheumatoid arthritis (JRA) and its relation to disease activity. The peripheral blood smear and bone marrow aspiration samples of 17 JRA patients were investigated and correlations with laboratory parameters of disease activity sought. The age range was 6-16 years and the duration of disease 1.5-108 months. Abnormal finding of the peripheral smear and bone marrow were scored separately. The score of pathological peripheral blood findings correlated significantly with CRP and ferritin (both P <0.05). In the bone marrow specimens marked changes were noted in the myeloid, erythropoietic, and megakaryopoietic series; however, the score of pathological findings did not correlate with laboratory parameters of disease activity (P > 0.05). We suggest that JRA is associated with marked myelodysplastic changes, also manifested in the peripheral blood smear; these changes may well be the consequence of the inflammatory milieu, including cytokines, during active disease.