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Abstract Background Say‐Barber‐Biesecker‐Young‐Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family. Currently, diseases caused by pathogenic variants in KAT6B (KAT6B‐related disorders) comprise two allelic entities: SBBYSS variant of Ohdo syndrome and genitopatellar syndrome (GPS). Increase in the number of cases with overlapping GPS/SBBYSS phenotype which makes it necessary to redefine this group of phenotypes as KAT6B‐related disorders or KAT6B spectrum disorders. Individuals with SBBYSS usually present with facial abnormalities, hypotonia, joint laxity, feeding problems, and long thumbs/great toes. This syndrome also typically involves skeletal problems including patellar hypoplasia/agenesis. Methods Here we report six SBBYS syndrome patients with the same dysmorphic features but a different course of the disease. One known and five novel KATB6 pathogenic variants were identified by molecular diagnostics using Next Generation Sequencing (NGS). Results We present a detailed phenotypic analysis of six individuals with KAT6B‐related disorders, in whom a heterozygous pathogenic variant in KAT6B gene was found. In all of our patients facial dysmorphism as well as developmental and speech delay were present. Additionally, all but one patients presented with hypotonia, ocular abnormalities and long thumbs. Most of our probands showed blepharophimosis and skeletal (mainly knee) defects. Contrary to previously reported severe patellar defects (hypoplasia/agenesis) anomalies presented by our patients were less severe (dysplasia, habitual dislocation, subluxation) referring to KAT6B‐related disorders. Conclusion While most of the anomalies found in our patients comply with SBBYSS criteria, phenotypic differences in our probands support a broader spectrum of the disease phenotype. To establish the range of this spectrum, a detailed analysis of clinical variability among patients with SBBYSS requires further investigation.

The impact of obesity on kidney injury and the development of chronic kidney disease (CKD) is well documented. Unfortunately, the early stages of CKD are asymptomatic, leading to a delayed diagnosis and a worse prognosis. There is a need for more sensitive indicators of kidney damage than those currently used. We aimed to assess the usefulness of serum t-CAF, urinary netrin-1, α-GST, π-GST, calbindin, and calprotectin as biomarkers of early kidney damage in obese children and to investigate the relationship between these indicators and the degree of obesity. A total of 125 simple obese, normoalbuminuric children and 33 non-obese children as controls were selected. Patients were divided into 2 subgroups according to SDS BMI (I: 2 ≤ 4, II: >4). Serum t-CAF was significantly higher in the obese group compared to the controls, as were urinary α-GST, netrin-1, π-GST, and calprotectin. No difference was found between the two obese groups. In normoalbuminuric obese children and adolescents without significant metabolic disorders, serum t-CAF may be a new biomarker for the early detection of renal dysfunction, and urinary netrin-1, α-GST, π-GST, and calprotectin may be better indicators for the detection of early tubular damage, independent of the severity of obesity. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of this study was to check the impact of selfanalysis and modification of treatment on glycemic control in T1D pediatric patients. Patients and methods. 63 T1D patients (34 Males), aged 3,3-17,9 years (x=12,4±4,6) were enrolled into the study. 33 patients (group 1) regularly attend Children with Diabetes Association meetings, where they received Contour Plus LinkTM meters and attended a lecture on managing glucose and pump data with CareLinkTM software. The remaining 30 patients (group 2) received meters and a short information about CareLinkTM during a visit in the Clinic. Pumps were downloaded and HbA1c was checked twice: while issuing meters (visit 1, V1) and 3 months later (visit 2, V2). Results. HbA1c in group 1 was 6,93±0,87% (5,5-9,0%) on V1 and 6,75±0,75% (5,6-8,2%) on V2 (p>0,05). HbA1c in group 2 was 7,48±1,17% (5,9-9,8%) on V1 and 7,6±0,86% (6,7-9,5%) on V2 (p>0,05). HbA1c was lower on both visits in group 1 (p=0,039 and p=0,02, respectively). HbA1c changed by (-)0,02±0,63% ((-) 1,7-1,0) in group 1 and (-)0,27±1,17% ((-)2,6-1,6) in group 2 (p>0,05). Comparable number of patients in both groups improved their glycemic control (11/31 vs. 9/19, p>0,05). Conclusions. Although the change in HbA1c was not significant, it has to be emphasized that 1/3 of patients improved their glycemic control. Easy access to treatment data analyzing tools may help people manage their diabetes more effectively by making better informed decisions. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of the study was to test the hypothesis that better metabolic control is associated with a lower percentage of insulin administered in the basal infusion, as well as the assessment of other factors that may affect the metabolic control. Patients and methods. 326 patients with DM 1 (172 boys) at the age of 1.5-18 years (x = 12.59 ± 3.91), treated with CSII over 6 months. Total daily dose (TDD) (IU/day), daily insulin demand (IU/kg/day), % of bolus insulin in TDD, % of basal insulin in TDD, and the number of SMBG/day were related to the average glycemia from the last one month before the visit (AVBG), glycemic variability (AVBG-SD), HbA1c and the frequency of hypoglycemia. Results. HbA1c was 8.3±1.6, AVBG 176.3±37.6 mg/dl. The metabolic control correlated with the age of patients (for HbA1c r=0.18, p=0.001, for AVBG r=0.14, p=0.019), duration of the disease (for HbA1c r=0.24, p<0.0001; for AVBG r=0.22, p=0.0009) and CSII treatment time (for HbA1c r=0.19, p=0.002, for AVBG r=0.18, p=0.007). HbA1c and AVBG correlated with the insulin demand (for HbA1c r=0.18, p=0.019, for AVBG r=0.21, p=0.007), the basal insulin dose (for HbA1c r=0.19, p=0.016; AVBG r=0.24, p=0.001), but not base% in TDD. The age of patients was related to the daily insulin demand (r=0.39, p<0.0001), the basal insulin dose (IU/kg) (r=0.51, p<0.0001), and the %base in TDD (r=0.37, p<0.0001). The number of measurements/ day correlated with age (r=-0.53, p<0.0001), duration of the disease (r=-0.29, p<0.0001) and treatment with CSII (r=-0.21, p = 0.002), as well as HbA1c r=- 0.29, p<0.0001. The duration of diabetes (OR 0.85, 95% CI: 0.76-0.96) and the number of glycemic tests (OR 1.13, 95% CI: 1.04-1.24) were the strongest predictors of HbA1c <7%. Conclusions. Better metabolic control in patients with type 1 diabetes treated with a personal insulin pump is dependent on the number of SMBG/day and disease duration, moreover those patients are characterized by lower insulin demand. [ABSTRACT FROM AUTHOR]

Aim of the article was to evaluate the dependence between concentration of the chemerin (CHEM) and chosen markers of endothelial dysfunction in children and adolescents with simple obesity. Total number of 98 children aged 8-18 years were examined. They were assigned to two groups on the base of nutritional status (children with simple obesity vs. normosthenic children). In the fasting state venous blood was collected for examination of: lipid profile, glycemia, insuline. Concentration of CHEM was determined with ELISA method, using commercially available kits (R&D Systems). Moreover, in the group with obesity levels of leptin, sE-selectin, sICAM-1, sVCAM-1 were examined as well (ELISA). Results. Concentration of chemerin is higher in children with simple obesity comparing to the control group (73,7±17,9 vs 58,2 ±12,9 ng/ml, p<0,0001). In the whole group of 98 children, a positive correlation have been shown between CHEM and BMI, as well as SDS-BMI (r=0,4058, p<0,0001; r=0,4256, p<0,0001 respectively), while in subgroup of obese dependence has been oscillating on the verge of statistical significance. A positive correlation CHEM with concentration of CRP was shown (r=0,3414, p=0,0087). We found a correlation between chemerin and sICAM-1 (r=0,3255, p=0,0163). Conclusions. 1. Concentration of chemerin is higher in a group of children with simple obesity than in a group of normosthenic children. 2. It has been shown that CHEM correlates with inflammation markers, like CRP. 3. In the group of obese children CHEM correlates with markers of endothelial dysfunction (sICAM). [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology / Endokrynologia Pediatryczna is the property of Proqurat Andrzej Prokurat and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology / Endokrynologia Pediatryczna is the property of Proqurat Andrzej Prokurat and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The aim of the study was to characterize adolescents who are admitted for an endocrine consultation due to obesity and to evaluate their and their parents expectations associated with the visit. Material and methods. Randomly selected adolescents referred to Pediatric Endocrine Outpatient Clinic between 2015 and 2016 with initial diagnosis of "obesity" (E66) were assigned to the study. Both - the parent and the adolescent, after signing ICFs, were asked to complete a questionnaire prepared by the investigators for this study. Results. The study involved 102 obese adolescents (14.4 ± 2.1 years, BMI 32.9 ± 5.4 kg/m², SDS BMI 4.0 ± 1.6). Parents most often did not know what caused excessive weightgain in their children (48.0%) or they mentioned excess food intake as the cause of obesity (37.3%). In turn, adolescents, especially boys, answered that the cause of their obesity was an inadequate diet (46.1%). It was only in the second order that they answered "I do not know" (35.3%).From the specialist, parents expected recommendations that would enable weight reduction (70.6%), and/or confirmation of secondary obesity (53.9%). 35 obese teenagers (34.3%) had previous diet consultations. There were no positive changes in the frequency of consumption of fruits and vegetables, sweetened beverages and sweets in the group who declared that they had visited a dietitian. Conclusions: The role of family physicians is to inform children and their parents about obesity, as well as to provide information about the need to modify eating habits and increase the physical activity. There is a need to establish "Obesity Clinics" in which overweight and obese children together with their parents would receive a multidisciplinary, long-term care. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology, Diabetes & Metabolism is the property of Termedia Publishing House and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction. Chemerin (CHEM) is achemotactic factor. It promotes the recruitment of immune cells to the site of injury. It was demonstrated that CHEM increases insulin resistance and glucose intolerance, and its concentration correlates with blood glucose and lipid levels. The aim of the study is to evaluate the concentration of CHEM in children with type 1 diabetes mellitus (T1D) depending on metabolic control and the duration of the disease. Material and Methods. The study included 80 children aged 4-18 years (x = 12.6 ± 3.6) in the following groups: children with T1D diagnosed <2 years (N = 23), children with T1Ddiagnosed 2-5 years ago (N = 12), children with T1D for > 5 years (N = 27) and children with no evidence of hyperglycemia or any autoimmune diseases (controls, N = 18). Laboratory tests were performed to diagnose diabetes and to determine the metabolic control (including HbA1c, lipids, CRP, albumin in the urine, fundus examination, c-peptide). Furthermore, the concentrations of the following: CHEM, E-selectin, adiponectin, leptin, IFN-gamma were assessed. Anthropometric measurements were performed. Results. CHEM concentrations were comparable in the T1D andthe control group (55.65 ± 10.08 vs. 61.40 ± 16.65 ng/ml, p = 0.07), as well as leptin (6.27 ± 7 20 vs. 10.62 ± 13.86 ng/ml, p = 0.08) and IFN-γ (2.99 ± 3.45 vs. 23.83 ± 8.74, p = 0.07). Adiponectin, and E-selectin were also similar in both groups. In patients with T1D CHEM concentration did not vary depending on age, duration of diabetes, the degree of metabolic control (HbA1c> 7.5% vs. HbA1c <7.5%), the c-peptide presence (> 0.1 ng/ml) or the presence of dyslipidemia and other autoimmune disease. CHEM correlated with E-selectin concentration (r = 0.4790, p = 0.024) and the number of white blood cells (r = 0.4455, p = 0.038). There was no correlation of CHEM concentration with HbA1c and lipids. Conclusions. No relationship between chemerin concentration and metabolic control as well as duration of the disease was observed innormal weight patients with type 1 diabetes. [ABSTRACT FROM AUTHOR]

Copyright of Pediatric Endocrinology / Endokrynologia Pediatryczna is the property of Proqurat Andrzej Prokurat and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Autoimmune thyroid disease (AITD) is diagnosed in 5-20% of pregnant women. Autoimmune thyroid disease in mother may be a cause of thyroid dysfunction in child. Hypothyroidism induced by thyrotropin receptor blocking antibodies (TRBAb) is present in 1-2% of children with congenital hypothyroidism. The aim of this paper was to evaluate thyroid function and presence of antithyroid antibodies in children of mothers with Hashimoto thyroiditis in the first year of life. Material and methods. 367 children were included into the study (185 boys, 182 girls, two twin pregnancies) of mothers with Hashimoto thyroiditis. The first visit in endocrinology out-patient clinic was done in 1st-2nd month of life, the follow-up visit at 6th-9th month of life. Anthropometrics were taken as well as blood samples for TSH, fT3, fT4, ATPO and ATG. Mothers had all proper thyroid function during the whole pregnancy. Results. 339 children (92,4%) were born on term, 281 (76,6%) with normal vaginal delivery, in good condition and with proper body mass. In three patients trisomy 21 was diagnosed. The neurological development of all children was not concerning. Thyroid function was proper (mean TSH 5,41±0,90 µIU/ml, fT3 8,00±1,24 pg/ml, fT4 16,89±2,09 pmol/ l). None of the observed child had elevated titer of antithyroid antibodies. Conclusions. 1. Malfunction of the thyroid gland in children of mothers with Hashimoto thyroiditis is rare, therefore no further diagnostic procedures except screening test is required. 2. In preterm babies as well as in children presenting cha-racteristic signs and symptoms, more detailed evaluation (TSH, fT4 levels) is necessary. [ABSTRACT FROM AUTHOR]