PURPOSE: Despite advances in genetic diagnostics, the molecular cause of a significant proportion of DSDs remains unknown. The aim of this study was to identify copy number variations (CNVs) using chromosomal microarray analysis (CMA) technology in DSD patients with previously undetected molecular genetic etiology and to investigate their phenotypic associations with these variations. METHODS: This study included DSD cases without chromosomal abnormalities and without any variants detected by sequence analysis methods, including whole-exome sequencing analysis. We evaluated variant pathogenicity according to the American College of Medical Genetics and Genomics guidelines and recorded the phenotypic findings of the cases. All pathogenic variants were subjected to segregation analysis. RESULTS: Of the 20 patients included in the study, 16 (80%) were classified as 46,XY DSD and 4 (20%) as 46,XX DSD. Initial clinical diagnoses in this 46,XX DSD group included gonadal dysgenesis in two patients (50%) and androgen excess in the remaining two (50%). Among the 46,XY DSD patients, five patients (31.25%) were presumed to be androgen insensitive, nine (56.25%) were diagnosed with defects in androgen biosynthesis, and two (12.5%) had gonadal dysgenesis. CMA detected 38 CNVs in 16 patients (80%), comprising 12 deletions (31.6%) and 26 duplications (68.4%). Three pathogenic CNVs were detected in 3 patients (15%), whereas 27 variants of uncertain significance were identified in 13 patients (65%). CONCLUSION: In selected cases, the diagnostic approach should incorporate CMA to elucidate the molecular etiology of DSD. Furthermore, CMA may prove to be an invaluable tool in the search for new genes responsible for DSD.

Objective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS). Methods: A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI. Results: Fifty-six patients (female/male: 25/31) from 46 different families were included. Consanguinity was noted in 15 (32.6%) families. Based on Sillence classification 18 (33.1%) were type 1 OI, 1 (1.7%) type 2, 26 (46.4%) type 3 and 11 (19.6%) type 4. Median body weight was -1.1 (-6.8, - 2.5) standard deviation scores (SDS), and height was -2.3 (-7.6, - 1.2) SDS. Bone deformity affected 30 dentinogenesis imperfecta (DI), and 2 (3.6%) had hearing loss. Disease-causing variants in COL1A1 and COL1A2 were found in 24 (52.1%) and 6 (13%) families, respectively. In 8 (17.3%) of the remaining 16 (34.7%) families, the NGS panel revealed disease-causing variants in three different genes ( FKBP10, SERPINF1, and P3H1). Nine (23.6%) of the variants detected by NGS panel had not previously been reported and were also classified as pathogenic based on American College of Medical Genetics guidelines pathogenity scores. In ten (21.7%) families, a disease-related variant was not found in any of the 13 OI genes on the panel. Conclusion: Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. Furthermore, nine new variants were identified in known OI genes which were classified as pathogenic by standard guidelines.

Aim: Premature adrenarche (PA) has been associated with metabolic and polycystic ovary syndrome (PCOS) and, thus, with an increased risk for type 2 diabetes and cardiovascular diseases in later life. Mean platelet volume (MPV), neutrophil/lymphocyte ratio (NLR), and platelet/lymphocyte ratio (PLR) are parameters used to show inflammation. This study planned to evaluate systemic inflammation in children with PA using MPV, NLR, and PLR. Materials and Methods: The study included 40 female patients diagnosed with PA and 40 healthy female individuals as a control group. The patient and control groups’ MPV, NLR, and PLR values were compared. Results: The mean age of the PA group was 7.18±0.66 years, and the mean age of the control group was 7.09±1.08 years. The mean MPV and platelet distribution width (PDW) values in the PA group were significantly higher than those in the control group (10.25±0.87 vs 9.52±0.79, p<0.001 and 15.43±1.31 vs 14.35±1.84, p=0.04, respectively). However, in the PA group, NLR and PLR were not significantly different from the values in the control group (p>0.05). The results of multivariate logistic regression analysis revealed that the MPV [odds ratio (OR); 95% confidence interval (CI): 0.331 (0.174-0.630); p=0.001], and PDW [OR; 95%: CI: 0.612 (0.425-0.884); p=0.008] were associated with PA in the patient group. Conclusion: Our results demonstrated that PA patients had significantly higher MPV levels and PDW than the healthy controls. Hence, recognition of early markers in adolescence might reveal primary pathogenetic alterations predictive of the later development of PCOS and/or metabolic syndrome.

Objectives Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology and to determine the relationship between genotype and phenotype in OI patients with whole exome sequencing (WES).Methods Multiplex-Ligation dependent Probe Amplification (MLPA) analysis of COL1A1 and COL1A2 and WES were performed on cases between the ages of 0 and 18 whose genetic etiology could not be determined before using a targeted next-generation sequencing panel, including 13 genes (COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, SP7, BMP1, MBTPS2, PLOD2) responsible for OI.Results Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50 %) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25 %) patients were considered to be type I, 7 (58.3 %) type III, and 2 (16.7 %) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50 %) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3 %) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes.Results Twelve patients (female/male: 4/8) from 10 different families were included in the study. In 6 (50 %) families, consanguineous marriage was noted. The clinical typing based on Sillence classification; 3 (25 %) patients were considered to be type I, 7 (58.3 %) type III, and 2 (16.7 %) type IV. Deletion/duplication wasn't detected in the COL1A1 and COL1A2 genes in the MLPA analysis of the patients. Twelve patients were molecularly analyzed by WES, and in 6 (50 %) of them, a disease-causing variant in three different genes (FKBP10, P3H1, and WNT1) was identified. Two (33.3 %) detected variants in all genes have not been previously reported in the literature and were considered deleterious based on prediction tools. In 6 cases, no variants were detected in disease-causing genes.Conclusions This study demonstrates rare OI types' clinical and molecular features; genetic etiology was determined in 6 (50 %) 12 patients with the WES analysis. In addition, two variants in OI genes have been identified, contributing to the literature.

Anormal uterin kanama (AUK), uterus korpusundan süre, miktar, sıklık ve/veya düzen açısından anormal olan kanama olarak tanımlanır. Adölesan dönemde en sık karşılaşılan jinekoendokrinolojik problemdir. Çalışmamızda AUK olan 40 adölesanın verileri retrospektif olarak incelendi. Hemoglobin 10-12 gr/dL hafif AUK; hemoglobin 8-9,9 gr/dL orta AUK; hemoglobin <8 gr/dL ağır AUK olarak sınıflandırıldı. Olguların yaş ortalaması 14,38±2,1 (11-17,8) yıldı. Olguların ortanca menstrual siklus aralığı 25 (10-45) gün, ortanca kanama süresi 10 (4-35) gün, ortalama ped sayısı 6,2 ped/gün idi. Olguların %17.5’inde (n=7) ağır AUK, %20’sinde (n=8) orta AUK, %62,5’inde (n=25) hafif AUK mevcuttu. 2 (%5) olguda hafif Von Willebrand Hastalığı saptandı. Kanama etiyolojisinde saptanan en sık etken anovulasyondu (n=34). Hafif AUK olan olgularda kanamaya yönelik tedavide ilk seçenek olarak non-steroid antiinflamatuar ilaçlar (NSAİİ) başlandı. Orta AUK olan adölesanlara (n=8) ve hafif AUK olup NSAİİ ile kanamaları kontrol altın alınamayan olgulara (n=6) 3mg drospirenon ve 30 mcg etinilöstradiol içeren kombine oral kontraseptif (KOK) başlandı. Bu olguların kanamaları KOK ile kontrol altına alındı. Ağır AUK olan olgulara, 3mg drospirenon ve 30 mcg etinilöstradiol içeren KOK günde 2-3 tablet olacak şekilde başlandı. Bu olguların kanamalarının kontrol altına alınamaması nedeniyle tedavilerine traneksamik asit oral olarak eklendi. Ağır AUK olan tüm olgularda kombine tedavi ile kanamalar kontrol altına alındı. Sonuç olarak; adölesan dönemde aşırı ve uzun süreli kanama sadece jinekolojik bir sorun değil, aynı zamanda sosyal bir sorundur. Bu nedenle hastalar çocuk endokrinoloji ve çocuk hematoloji tarafından kapsamlı olarak değerlendirilmeli ve tedavileri multidisipliner olarak planlanmalıdır.

INTRODUCTION:Polycystic ovary syndrome (PCOS) is a common syndrome often observed during adolescence, characterized by ovulatory dysfunction and hyperandrogenism. It is determined that, when female fetuses are exposed to high levels of androgens, it increases their likelihood of developing PCOS in later ages. The 2D:4D digit ratio, which measures the length of the index finger compared to the ring finger, is a precise anatomical indicator of the degree of prenatal androgen exposure. Higher digit ratios in individuals have been associated with outcomes typically attributed to females. In the adolescent age group, the relationship between PCOS and androgen exposure during the antenatal period is not clear. AIM:The study was aimed to evaluate digit ratios in adolescents with PCOS. METHODS:The study included 38 adolescent girls with PCOS, and 40 healthy adolescent girls were selected as the control group. The digit ratio (2D:4D) was evaluated by digital calipers, and the digit ratios of the patient and control groups were compared. RESULTS:The mean age in the PCOS group was 15.99±1.18 years, while the control group had a mean age of 16.02±1.06 years. The right-hand 2D:4D digit ratio was significantly lower in the PCOS group (0.93±0.02) compared to the control group (1.00±0.01, p<0.001). Similarly, the left-hand 2D:4D digit ratio was also lower in the PCOS group (0.98±0.03) compared to the control group (1.00±0.01, p<0.001). There was a moderate negative correlation between the left-hand 2D:4D ratio and the modified Ferriman-Gallwey score (mFGS) (r=0.53, p=0.01). Nevertheless, there was not a significant association found between the 2D:4D ratio of the right hand and mFGS. CONCLUSION:This study demonstrates that PCOS patients have significantly lower both-hand 2D:4D ratios than healthy controls, suggesting prenatal androgen exposure. Recognizing anatomic markers in adolescence may predict the development of PCOS. The findings align with previous research linking low digit ratios to androgen exposure and various reproductive outcomes.

OBJECTIVE:Diabetic kidney disease (DKD) is influenced by multiple factors, yet its precise progression mechanisms remain largely unclear. This study aimed to create a clinical risk-scoring system based on genetic polymorphisms in the AFF3, CARS, CERS2, ERBB4, GLRA3, RAET1L, TMPO, and ZMIZ1 genes. METHODS:The study included a DKD group diagnosed with diabetic kidney disease before age 18 and a WDC group matched by age, gender, and age at diabetes diagnosis. Genetic data and clinical data from diabetes diagnosis to moderately increased albuminuria (MIA) detection were compared between the groups. RESULTS:Among 43 DKD cases, 22 were girls and 21 were boys. At MIA diagnosis, mean body weight SDS was -0.24 ± 0.94, height SDS was 0.34 ± 1.15, and BMI SDS was -0.26 ± 0.94. Systolic blood pressure was at the 72nd percentile (2-99), and diastolic blood pressure was at the 74th percentile (33-99). Significant differences in rs267734, rs267738, and rs942263 polymorphisms were found between DKD and non-complication diabetic groups (13[30.2 %] vs 5[11.6 %], p = 0.034; 14[32.6 %] vs 5[11.6 %], p = 0.019; 26[60.5 %] vs 40[93 %], p < 0.001). CONCLUSION:Several factors were identified as significant in DKD onset, including low follow-up weight SDS, elevated diastolic blood pressure, presence of rs267734, and absence of rs942263 polymorphisms. The model demonstrated a specificity of 81.4 % and a sensitivity of 74.4 %.

Objectives: Activating variants of the ABCC8 gene cause neonatal diabetes or maturity-onset diabetes of the young (MODY). We report three cases of MODY type 12 caused by variants in the ABCC8 encoding sulphonylurea receptor 1, and the experience of switching from insulin therapy to sulphonylurea therapy.Case presentations: We describe a 12.5-year-old girl with permanent neonatal diabetes mellitus, and two diabetes mellitus cases with variants in the ABCC8 gene. Two of these cases were successfully switched from subcutaneous insulin to oral glibenclamide, with a marked improvement in glycemic control. In permanent neonatal diabetes case, glibenclamide dose was progressively increased to achieve a full dose (2 mg/kg/day) in 9 days. Nine months after starting oral sulphonylurea therapy, her blood glucose control dramatically improved and insulin therapy was discontinued.Conclusions: We conclude that patients with ABCC8 gene variants can successfully switch from insulin to sulphonylureas.

Background and Aims. The optimal basal and bolus insulin distribution in type 1 diabetes (T1D) is still controversial. Herein, we aimed to determine the variability of basal to total daily insulin dose according to treatment modality and diabetes technologies from the Better Control in Pediatric and Adolescent Diabetes: Working to Create Centers of Reference (SWEET) registry. Methods. The study cohort was generated by using the SWEET database. Patients with T1D for at least 2 years, aged between 2.5 and 18 years, with at least one clinic visit between June 2010 and June 2021, were included in the study. Four groups were composed according to treatment modality as follows: multiple daily injections (MDI) without continuous glucose monitoring (CGM); MDI with CGM; subcutaneous insulin infusion (CSII) without CGM; and CSII with CGM. Data of the participants were analyzed and compared for each treatment modality separately. Results. A total of 38,956 children and adolescents were included in the study. Of the study sample, 48.6% were female, the median (range) age was 15.2 (11.9–17.2) years, and the median diabetes duration was 6.0 (3.8–9.0) years. The distribution of treatment modality was as follows: MDI without CGM, 32.9%; MDI with CGM, 18.0%; CSII without CGM, 11.7%; and CSII with CGM, 37.3%. In unadjusted data, regardless of treatment modality, all the analyses revealed a significant association between basal dose to total daily insulin dose (BD/TDD) with male gender, younger age group, and lower HbA1c, which were all related to a decreased ratio of BD/TDD (all p < 0.05 ). There was no association between BD/TDD and different diabetes technologies after the age, gender, and diabetes duration were adjusted. Conclusions. Herein, we showed that there was an association between lower proportions of basal to total insulin and lower hemoglobin A1c in a large cross-sectional cohort of children who had T1D. There was also an association between lower BD/TDD and younger age. There was no significant difference between BD/TDD ratios under different diabetes technologies (CGM and/or CSII).

Abstract Objectives Familial transmission is observed in approximately 10% of cases with type 1 diabetes mellitus (T1DM). The most important gene determining susceptibility is the human leukocyte antigen complex (HLA) located on chromosome 6. More than 50 susceptible loci are associated with T1DM susceptibility have been identified in genes other than HLA. In this study, it was aimed to investigate the molecular genetic etiology by whole-exome sequence (WES) analysis in cases with familial T1DM with no or weakly detected HLA tissue type susceptibility. We aimed to identify new genes responsible for the development of type 1 diabetes and to reveal new genes that have not been shown in the literature before. Methods Cases with at least one T1DM diagnosis in first-degree relatives were included in the study. In the first step, HLA DQ2 and DQ8 loci, which are known to be associated with T1DM susceptibility, were investigated by. In the second step, the presence of variants that could explain the situation was investigated by WES analysis in patients who were negative for both HLA DQ2 and HLA DQ8 haplotypes, HLA DQ2 negative, HLA DQ8 positive, and HLA DQ2 positive and HLA DQ8 negative patients. Results The mean age and duration of diabetes of the 30 cases (Girl/Male: 17/13) were 14.9 ± 6 and 7.56 ± 3.84 years, respectively. There was consanguineous marriage in 5 (16%) of the families. As a result of filtering all exome sequence analysis data of two cases with DQ2 (DQB1*02) (−) and DQ8 (DQB1*03:02) (−), seven cases with DQ2 (DQB1*02) (+) and DQ8 (DQB1*03:02) (−), and one case with DQ2 (DQB1*02) (−) and DQ8 (DQB1*03:02) (+), seven different variants in seven different genes were detected in five cases. The pathogenicity of the detected variants were determined according to the “American College of Medical Genetics and Genomics (ACMG)” criteria. These seven variants detected were evaluated as high-score VUS (Variants of unknown/uncertain significance). In the segregation study conducted for the mutation in the POLG gene detected in case 5, this variant was detected in the mother of the case and his brother with T1DM. Segregation studies are ongoing for variants detected in other affected individuals in the family. Conclusions In conclusion, in this study, seven different variants in seven different genes were detected in five patients by WES analysis in familial T1DM patients with no or weak HLA tissue type susceptibility. These seven variants detected were evaluated as high-score VUS. POLG might be a novel candidate gene responsible for susceptibility to T1DM. Non-HLA genes directly responsible for the development of T1DM were not detected in any of the cases.

Objective: A contrary relationship between body mass index (BMI) and growth hormone (GH) secretion has been demonstrated in adults. BMI-specific cutoff levels are suggested for identifying growth hormone deficiency (GHD) in adulthood. However, specific values for BMI and growth hormone stimulation test responses in the childhood age group are not certain. In this research, our purpose was to investigate the relationship between GH peak response and BMI in children who underwent GHST with a pre-diagnosis of GHD. Material and Methods: This was a retrospective study of stimulative GH testing with clonidine and L-dopa performed in 150 children 2–18 year-old with short stature (< -2 SDS) in the Pediatric Endocrinology Unit at Bakırçay University Çiğli Training and Research Hospital from the years of 2018 to 2023. Anthropometric measurements, insulin-like growth factor-1 (IGF-I) and IGFBP- 3 levels, especially peak-stimulated GH, were evaluated. Results: A total of 150 patients [98 boys (65.3%) and 52 girls (34.7%)] were included in the study. The mean age of the individuals during testing was 10.26 ± 3.37 years, mean height standard deviation score (SDS) was -2.64 ± 0.89, mean weight SDS was -1.85 ± 1.01 and mean body mass index (BMI) SDS was -0.47 ± 1.07. Ninety-two of the patients (63%) were prepubertal. The mean value for maximum growth hormone serum level (GHmax) clonidine collected during the growth hormone stimulation test was 4.46 ± 2.83 ng/mL, while the mean value in L-dopa test was 3.29 ± 2.57 ng/mL. There was no statistical distinction in terms of both test responses. The correlation between peak GH and BMI-SDS, in terms of clonidine and L-dopa tests, was significantly negative [β = -0.257 (p = 0.010), β = -0.283 (p = 0.004), respectively]. Age, gender and puberty were not significantly associated with peak GH value. In terms of L-dopa peak GH level, the GH level in group 4 (>1 SDS) was revealed to be statistically lower than that in group 1 (< -1 SDS), nevertheless, similar relationship was not detected for clonidine. Conclusion: In our study, a negative correlation was found between GHmax and BMI-SDS in terms of clonidine and L-dopa tests. Therefore, keeping BMI-SDS in mind when evaluating growth hormone stimulation tests performed in short children may be guiding. Still, future studies are needed to make it a determining factor when deciding on treatment.

Aim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES). Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes. Following targeted NGS, WES was planned in cases in whom no variant was detected. Results: Thirty different disease-causing variants in seven different genes were detected in thirty-five (35 %) cases with targeted NGS approach. Most common pathogenic variant was found in GCK gene in 25 (25 %) cases. Four different variants were detected in 4 (4 %) patients in ABCC8 gene. In 45 of 65 cases; WES analyses were done. A heterozygous c.2635C > T(p.Gln879Ter) variant was detected in IFIH1 gene in a patient with incidental hyperglycemia. In the segregation analysis affected mother was shown to be heterozygous for the same variant. Conclusion: Molecular etiology was determined in 35 % cases with the NGS targeted panel. Seventeen novel variants in monogenic DM genes have been identified. A candidate gene determined by WES analysis in a case that could not be diagnosed with NGS panel in this study.

Aim: Congenital hypothyroidism (CH) is one of the most common endocrinological problems in the neonatal period. CH, which occurs in 1:3,000-4,000 births, is a preventable cause of mental retardation. In the literature, the most common cause of CH is dysgenesis of the thyroid gland, followed by thyroid dyshormonogenesis. We aimed to determine the prevalence of permanent (P-CH) and transient (T-CH) CH in cases followed up with a diagnosis of CH and to identify a prediction method for persistency. Materials and Methods: We retrospectively analyzed the medical records of 105 children with CH. TSH levels in a screening program, TSH and fT4 levels of the first venous sample, 10-15th day of treatment, monthly in the first 6 months, 2-3 monthly until 18th months, and 6-monthly until 3 years of age were recorded. L-T4 doses (per microgram per body weight) in each visit were also recorded. Results: From the 105 children (58 males, 47 females) enrolled in this study, 38 (36.2 %) were referred from the National Newborn Screening Program. Treatment was discontinued during the 3rd year follow-up period in 44 (41.9 %) of the cases with normal thyroid gland morphology. L-thyroxine (L-T4) therapy was discontinued at a median age of 1.9+-1.08 years. TSH levels at the time of diagnosis were higher in the P-CH group, but this difference was not statistically significant (p=0.165). At the sixth month, first and second years of follow-up, L-T4 doses were significantly higher in the P-CH than in the T-CH group (p<0.001, p<0.001, p<0.001 respectively). TSH levels were also higher in the P-CH group than in the T-CH group (p=0.123, p=0.038, p=0.049 respectively). Consistent with these results, measured fT4 levels were found to be lower in the P-CH group compared to the T-CH group (p=0.431, p=0.361, p=0.028 respectively). Conclusion: L-T4 doses at 6, 12 and 24 months may predict transient hypothyroidism in patients with normal thyroid gland morphology before 36 months.

Objectives: Osteogenesis imperfecta (OI) is a disease caused by defective collagen synthesis. Collagen type 1 is found in many structures in the cardiovascular system. Endothelial dysfunction, which develops prior to the emergence of structural and clinical signs of atherosclerosis, is believed to play a key role in atherogenesis. Endothelial dysfunction may be detected presymptomatically by non-invasive radiologic methods, such as flow-mediated dilatation (FMD) and carotid intima-media thickness (CIMT). These modalities may provide early indicators of endothelial dysfunction. This cross-sectional comparative study aimed to investigate early-stage radiological markers of endothelial dysfunction and cardiovascular diseases in OI patients and healthy controls and to investigate the correlation of findings with OI genotype.Methods: Thirty patients diagnosed with OI were paired with thirty healthy age- and gender-matched controls and echocardiogram findings were compared.Results: None of the patients had known underlying cardiovascular disease. The mean age was 13.18 +/- 2.91 years. According to Sillence classification, 15 patients had Type 1 OI, 10 had Type III, and 5 had Type IV. Mean CIMT in the OI group was higher in the control group (OI group: 0.42 +/- 0.06 vs. healthy controls: 0.34 +/- 0.04 mm, p<0.01), and mean FMD percent was lower in the patient group (p<0.01). Left ventricular ejection fraction was 78.97 +/- 10.32 vs. 77.56 +/- 8.50 %, (OI group: 7.00 +/- 3.06 vs. healthy controls: 12.14 +/- 1.99, p=0.56), and fractional shortening was 42.68 +/- 11.94 vs. 40.23 +/- 7.99 %, (p=0.35), in OI patients and controls, respectively.Conclusions: Pediatric patients with OI without clinical signs of cardiovascular abnormality had significantly worse CIMT and FMD findings than healthy controls. However, no difference was determined when comparing left ventricular ejection fraction or fractional shortening. OI patients may need to be screened for cardiovascular system complications starting from an early age.

Introduction: Predictive Low Glucose Suspend (PLGS) system helps to prevent hypoglycemia Time in and out of the target range and measures of glucose variability derived from CGM data can provide more comprehensive indicators of glycemic control than A1C alone.\r\n\r\nAim: To evaluate the effect of PLGS therapy on GV; Percentage of Time in Range(TIR), Time Below Range (TBR) and Time Above Range (TAR) in pediatric Type 1 diabetic patients.\r\n\r\n Methods: HbA1c, Coefficient of Variation (CV), Standard Deviation(SD); percentage of TIR, TBR and TAR were evaluated in Type 1 Diabetic (T1D) pediatric patients followed up between Jan 2016 and Mar 2020 using PLGS system\r\n\r\nResults: Mean age of diagnosis and duration of diabetes was 6.7 ± 4.1 and 8.2 ± 4.3 years respectively. Nineteen of the patients were male (46.3%) and 22 were female (53.7%). Twentytwo (53.7%) of the patients were using low glucose suspend system (group 1) and 19(46.3%) were on Multiple Dose Injection therapy(MDI) (group 2).On PLGS therapy the 3rd, 6th, 9th and 12th months’ HbA1c of patients were not different from previous years’ mean HbA1c in both of the groups(p=0.30;p=0.23). In the 3rd, 6th, 9th and 12th months of PLGS therapy % of TIR were 65.34 ± 14.75%, 65.80 ± 14.67%, 66.58 ± 11.21% and 70.04 ± 10.16%, respectively(p=0.01). In addition mean TBR 70% and the time spent in hypoglycemia were very low.

Predictive low-glucose suspend (PLGS) system helps prevent hypoglycemia. To evaluate the effect of PLGS therapy on GV and percentage of time in range (TIR), time below range (TBR), and time above range (TAR) in pediatric type 1 diabetic patients. HbA1c, coefficient of variation (CV), standard deviation (SD), and percentage of TIR, TBR, and TAR were evaluated in type 1 diabetic (T1D) pediatric patients followed up between Jan 2016 and Mar 2020 using PLGS system. Mean ages of diagnosis and duration of diabetes were 6.7 ± 4.1 and 8.2 ± 4.3 years, respectively. Nineteen of the patients were male (46.3%) and 22 were female (53.7%). Twenty-two (53.7%) of the patients were using low-glucose suspend system and 19 (46.3%) were on multiple daily injection therapy (MDI). On PLGS therapy, the 3rd, 6th, 9th, and 12th months’ HbA1c of patients were not different from previous years’ mean HbA1c in all participants. In the 3rd, 6th, 9th, and 12th months of PLGS therapy, % of TIR were 65.34 ± 14.75%, 65.80 ± 14.67%, 66.58 ± 11.21%, and 70.04 ± 10.16%, respectively (p = 0.01). Although statistically insignificant, CV decreased from 36.33 to 34.30% and SD decreased from 60.14 to 58.60 in the 1-year follow-up period (p = 0.062 and p = 0.246). With PLGS therapy, TIR was > 70% and the time spent in hypoglycemia was very low.

Background: Diabetes management and achieving good glycemic control are challenging in preschool period. Continuous subcutaneous insulin infusion (CSII) is the treatment of choice for managing type 1 diabetes mellitus (T1DM), especially in children under seven years of age.Objective: To compare the glycemic control (HbA1c), anthropometric measurements, daily insulin requirement and basal and bolus insulin rates of the group using CSII as initial therapy with the group using multiple initial daily injection (MDI) treatment.Method: Ten children with T1DM using CSII as a first-line therapy, who were followed up regularly for at least 1 year, and 10 children using MDI, who were similar in terms of age and gender with CSII group, were included in this retrospective study. Daily total insulin (U/kg), basal and bolus insulin rates, and HbA1c values of the children, obtained from medical records, were compared during the first year of the follow-up.Results: The mean age of diagnosis of children with T1DM was 2.01 +/- 1.28 years in the CSII group and 3.11 +/- 1.49 years in the MDI group. While HbA1c values measured in the first year showed a significant decrease in both treatment groups, first year HbA1c was significantly lower in the CSII group compared to the MDI group (p=0.04). Mean total daily insulin requirement for first year was 0.61 +/- 0.10 U/kg in the CSII group, and 0.82 +/- 0.18 U/kg in MDI (p=0.007).Conclusion: In children under the age of 5 with T1DM, using CSII as initial therapy provided better metabolic control with a lower daily insulin dose than MDI regimen even in the first year of the treatment. Studies with longer duration and more participants are needed.