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Öğe 17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort(Springer, 2024) Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dundar, IsmailPurpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.Öğe The Association between Insulin Resistance and Lower Extremity Muscle Strength, Static and Dynamic Standing Balances in Obese Adolescents(Karger, 2016) Akinci, Aysehan; Ersoy, Yuksel; Dundar, Ismail[Abstract Not Available]Öğe The Beneficial Effect of Cinacalcet on the Treatment of vitD Resistant Rickets(Karger, 2016) Akinci, Aysehan; Dundar, Ismail[Abstract Not Available]Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, LemanObjective: Idiopathic hypogonadotropic hypogonadism (IHH) is classified into two groups-Kalman syndrome and normosmic IHH (nIHH). Half of all cases can be explained by mutations in >50 genes. Targeted gene panel testing with nexrt generation sequencing (NGS) is required for patients without typical phenotypic findings. The aim was to determine the genetic etiologies of patients with IHH using NGS, including 54 IHH-associated genes, and to present protein homology modeling and protein stability analyzes of the detected variations.Methods: Clinical and demographic data of 16 patients (eight female), aged between 11.6-17.8 years, from different families were assessed. All patients were followed up for a diagnosis of nIHH, had normal cranial imaging, were without anterior pituitary hormone deficiency other than gonadotropins, had no sex chromosome anomaly, had no additional disease, and underwent genetic analysis with NGS between the years 2008-2021. Rare variants were classified according to the variant interpretation framework of the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology. Changes in protein structure caused by variations were modeled using RoseTTAFold and changes in protein stability resulting from variation were analyzed.Results: Half of the 16 had no detectable variation. Three (18.75%) had a homozygous (pathogenic) variant in the GNRHR gene, one (6.25%) had a compound heterozygous [likely pathogenic-variants of uncertain significance (VUS)] variant in PROK2 and four (25%) each had a heterozygous (VUS) variant in HESX1, FGF8, FLRT3 and DMXL2. Protein models showed that variants interpreted as VUS according to ACMG could account for the clinical IHH.Conclusion: The frequency of variation detection was similar to the literature. Modelling showed that the variant in five different genes, interpreted as VUS according to ACMG, could explain the clinical IHH.Öğe Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism (vol 15, pg 160, 2023)(Galenos Publ House, 2023) Ciftci, Nurdan; Akinci, Aysehan; Akbulut, Ekrem; Camtosun, Emine; Dundar, Ismail; Dogan, Mustafa; Kayas, Leman[Abstract Not Available]Öğe Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism(Walter De Gruyter Gmbh, 2023) Buyukavci, Mehmet Akif; Dundar, IsmailObjectives: Congenital hypothyroidism (CH) is still one of the most common causes of preventable cognitive impairment in children, and its early detection and treatment prevent irreversible neurodevelopmental delay. Depending on the underlying cause, cases with CH may be transient or permanent. This study aimed to compare the developmental evaluation results of transient and permanent CH patients and to reveal any differences.Methods: A total of 118 patients with CH, who were followed up jointly in pediatric endocrinology and developmental pediatrics clinics, were included. The patients' progress was evaluated per the International Guide for Monitoring Child Development (GMCD).Results: Of the cases, 52 (44.1%) were female, and 66 (55.9%) were male. While 20 (16.9%) cases were diagnosed with permanent CH, 98 (83.1%) were diagnosed with transient CH. According to the results of the developmental evaluation made with GMCD, the development of 101 (85.6%) children was compatible with their age, while 17 (14.4%) children had delays in at least one developmental area. All 17 patients had a delay in expressive language. Developmental delay was detected in 13 (13.3%) of those with transient CH and 4 (20%) with permanent CH.Conclusions: There is difficulty in expressive language in all cases of CH with developmental delay. No significant difference was found between the developmental evaluations of permanent and transient CH cases. The results revealed the importance of developmental follow-up, early diagnosis and interventions in those children. GMCD is thought to be an important guide to help monitoring the development of patients with CH.Öğe The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D3-Resistant Rickets(Galenos Yayincilik, 2017) Akinci, Aysehan; Dundar, Ismail; Kivilcim, MeltemHigh doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1,25 dihydroxyvitamin D-3-resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be a safe and effective therapeutic choice in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet in the normalization of secondary hyperparathyroidism and hypophosphatemia in two siblings aged 2.5 years and 6 months with HVDRR who did not respond to traditional treatment regimes. Both patients were admitted to the hospital with severe hypocalcemia. They were treated with high doses of calcitriol and calcium infusions intravenously. Secondary hyperparathyroidism was normalized temporarily, but did not improve completely. Cinacalcet (0.25 mg/kg) once a day along with the high doses of oral calcium and calcitriol was added to the treatment schedule. After 3 months, biochemical and radiologic findings reverted to normal. Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology.Öğe Etiological, clinical, and laboratory evaluation of congenital hypothyroidism and determination of levothyroxine (LT4) dose at treatment interruption in differentiating permanent vs. transient patients(Tubitak Scientific & Technological Research Council Turkey, 2022) Dundar, Ismail; Buyukavci, Mehmet Akif; Ciftci, NurdanBackground/aim: Congenital hypothyroidism (CH) is the most common cause of preventable but irreversible mental retardation in children, although the risk has been widely abolished by national neonatal screening programs. The aim of this study was to determine, (a) the cause of CH, (b) the etiological cause of persistent CH and (c) to investigate the role of laboratory and clinical data in predicting persistent and transient CH. Materials and methods: Patients diagnosed with CH, who started L-thyroxine treatment and were followed up for at least three years were included. Patient data were reviewed retrospectively. Serum thyroid hormones were measured four weeks after discontinuation of therapy at age three or earlier. Cases with a thyroid-stimulating hormone (TSH) value of >10 mIU/mL were accepted as permanent hypothyroidism, while cases with normal TSH values for six months after cessation were accepted as transient hypothyroidism. Results: There were 232 treated cases, of whom 108 (46.6%) were female, and 169 (72.8%) were eventually diagnosed with transient CH. The best cut-off point for predicting permanent status was determined as LT4 cut-off dose >= 1.45 mcg/kg/day. The median (range) duration of L-thyroxine treatment in transient hypothyroid cases was 24 (range: 6-36) months, and treatment was discontinued before the age of three years in 64%. Conclusion: It has been shown that the most common etiologic cause of CH is transient hypothyroidism. The thyroxine dose at the time of discontinuation of treatment and free thyroxine and TSH levels at the time of diagnosis are essential determinants in distinguishing permanent/transient CH.Öğe Frequency of Dyslipidemia and Associated Risk Factors Among Obese Children and Adolescents in Turkey(Briefland, 2022) Dundar, Ismail; Akninci, AysehanBackground: The chronic inflammatory state that occurs in obesity causes metabolic complications such as dyslipidemia, hypertension, insulin resistance, hepatosteatosis, and cardiovascular disorder. Dyslipidemia secondary to obesity, which is an important cause of morbidity, is a worldwide concern. Dyslipidemia has an essential role in the pathogenesis of cardiovascular disease (CVD). Objectives: The aim of this study was to determine the prevalence and risk factors associated with dyslipidemia in obese children and adolescents. Methods: This single-center, retrospective, cross-sectional study included 1,136 obese patients. Fasting lipid, liver transaminases, glucose, and insulin levels were measured, and ultrasound scans (US) were performed. Other clinical assessments included waistto-hip ratio, blood pressure, and the presence of acanthosis nigricans and striae. Results: Dyslipidemia was present in 644 (56.7%) cases. Puberty, high body mass index (BMI), increased waist-hip ratio, increased homeostasis model of assessment for insulin resistance (HOMA-IR), high uric acid, and acanthosis nigricans were found to be risk factors for dyslipidemia. Conclusions: The prevalence of dyslipidemia in obese children was high and increased with puberty. Therefore, obese children and adolescents should be closely monitored for dyslipidemia that predisposes them to adolescent CVD.Öğe The Frequency of Subclinical Hypothyroidism in Obese Children and Adolescents and Its Relationship with Metabolic Parameters and Atherogenic Index(Aves, 2022) Dundar, Ismail; Akinci, AysehanObjective: The effect of subclinical hypothyroidism on glucose and lipid metabolism in obese children is controversial. This study aims to compare cardiovascular risk factors in obese patients with or without subclinical hypothyroidism and determine the frequency of subclinical hypothyroidism in obese children and adolescents. Materials and Methods: A total of 1130 obese children and adolescents aged 6-18 years were included in this single-center cross-sectional study. Metabolic parameters such as thyrotropin, free thyroxine, free triiodothyronine, homeostasis model assessment for insulin resistance, atherogenic index, and lipids were evaluated. The patients were divided into two groups-subclinical hypothyroidism group (free thyroxine normal, thyroid-stimulating hormone 5.5-10 mIU/L) (n = 59) and the control group (free thyroxine normal, thyroid-stimulating hormone < 5 mIU/L) (n = 1071). Results: Subclinical hypothyroidism was detected in 59 (5.2%) of 1130 patients. The mean body mass index was similar in both groups. The mean serum insulin, homeostasis model assessment for insulin resistance, triglyceride, atherogenic index of plasma, aspartate aminotransferase, and alanine aminotransferase levels were higher in the subclinical hypothyroidism group, and the mean high-density lipoprotein cholesterol level was lower than the control group (P =.005, P <.001, P =.028, P <.001, P =.001, P <.001, and P =.018, respectively). While a positive correlation was observed between the thyroid-stimulating hormone levels and insulin, homeostasis model assessment for insulin resistance, alanine aminotransferase, triglyceride, and basal cortisol levels, a negative correlation was found between thyroid-stimulating hormone and highdensity lipoprotein cholesterol. Conclusion: Subclinical hypothyroidism can negatively affect the lipid and glucose profile.Öğe Laron syndrome related to homozygous growth hormone receptor c.784>C mutation in a patient with hypoplastic pulmonary arteries(Clinics Cardive Publ Pty Ltd, 2019) Akinci, Aysehan; Karakurt, Cemsit; Hwa, Vivian; Dundar, Ismail; Camtosun, EmineLaron syndrome, also known as growth hormone insensitivity, is an autosomal recessive disorder characterised by short stature due to mutations or deletions in the growth hormone receptor (GHR), leading to congenital insulin-like growth factor 1 (IGF1) deficiency. Cardiac abnormalities, such as patent ductus arteriosus or peripheral vascular disease are rare in patients with Laron syndrome, but cardiac hypertrophy has been observed after IGF1 therapy. In this report, we present a 10-year-and-5-month-old girl with severe peripheral-type pulmonary artery hypoplasia and Laron syndrome related to homozygous GHR c.784>C mutation.Öğe Nutritional rickets in Turkish and refugee children aged 0-2: an increasing problem despite vitamin D prophylaxis(Turkish J Pediatrics, 2023) Dundar, Ismail; Buyukavci, Mehmet AkifBackground. Nutritional rickets (NR) is still a major problem and is exacerbated by an increasing influx of immigrants. In this study, Turkish and immigrant cases followed with the diagnosis of NR in our pediatric endocrinology clinic were retrospectively evaluated. Methods. Detailed data of cases diagnosed with NR between 2013 and 2020 and followed for at least six months were reviewed. Results. In the study period, 77 cases of NR were identified. Turkish children constituted 76.6% (n=59) while 18 (23.4%) were immigrant children. The mean age at diagnosis was 8.1 & PLUSMN;7.8 months, 32.5% (n=25) were female, and 67.5% (n=52) were male. The 25-hydroxyvitamin D3 was below normal in all patients, with a mean value of 4.3 & PLUSMN;2.6 ng/mL. Parathyroid hormone (PTH) was above normal in all and the mean value was 301.7 & PLUSMN;139.3 pg/ mL. While there were 3.9 cases of NR in 10,000 endocrine clinic patients in 2013, this rate increased more than four-fold to 15.7 patients in 2019. Conclusions. Despite the vitamin D prophylaxis program in Turkiye, NR is seen significantly more frequently in recent years, which may be associated with an increasing number of refugees. High PTH levels indicate the severity of NR cases admitted to our clinic. However, clinically significant NR is only the tip of the iceberg and the true burden of subclinical rickets is unknown. Increasing compliance with the vitamin D supplementation in and Turkish children is for the of nutritional rickets.Öğe Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience(Galenos Yayincilik, 2021) Camtosun, Emine; Dundar, Ismail; Akinci, Aysehan; Kayas, Leman; Ciftci, NurdanObjective: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. In childhood, PAI is usually caused by monogenic diseases. Although congenital adrenal hyperplasia (CAH) is the most common cause of childhood PAI, numerous non-CAH genetic causes have also been identified. Methods: Patients aged 0-18 years and diagnosed with PAI between 1998 and 2019 in a tertiary care hospital were retrospectively evaluated. After the etiologic distribution was determined, non-CAH PAI patients were evaluated in detail. Results: Seventy-three PAI patients were identified. The most common etiology was CAH (69.9%, n=51). Non-CAH etiologies accounted for 30.1% (n=22) and included adrenoleukodystrophy (ALD; n=8), familial glucocorticoid deficiency (n=3), Triple A syndrome (n=5), autoimmune adrenalitis (n=1), adrenal hypoplasia congenital (n=1), IMAGe syndrome (n=1), and other unknown etiologies (n=3). The median age at the time of AI diagnosis for non-CAH etiologies was 3.52 (0.03-15.17) years. The most frequent symptoms/clinical findings at onset were hyperpigmentation of skin (81.8%), symptoms of hypoglycemia (40.9%), and weakness/fatigue (31.8%). Hypoglycemia (50.0%), hyponatremia (36.4%) and hyperkalemia (22.7%) were prominent biochemical findings. Diagnosis of specific etiologies were proven genetically in 13 of 22 patients. A novel p.Q301* hemizygous frameshift mutation of the DAX1 gene was identified in one patient. Conclusion: Etiology was determined in 86.3% of children with non-CAH PAI through specific clinical and laboratory findings with/without molecular analysis of candidate genes. ALD was the most common etiology. Currently, advanced molecular analysis can be utilized to establish a specific genetic diagnosis for PAI in patients who have no specific diagnostic features.Öğe Presentation, diagnosis and follow-up characteristics of 17?-hydroxylase deficiency cases with exon 1-6 deletion (founder mutation) in the CYP17A1 gene: 20-years single-center experience(Karger, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, LemanContext: 17 alpha-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol synthesis, as well as an increased mineralocorticoid effect.Aim: This study aimed to evaluate the clinical, biochemical, and molecular characteristics of patients with 17OHD and to discuss the diagnosis, treatment, and follow-up process. Methods: Age, symptoms, anthropometric measurements, blood pressure, and hormonal, biochemical, and chromosomal analysis results of 13 patients diagnosed with 17OHD between 2003 and 2022 were recorded at admission and during follow-up. Whole gene next-generation sequencing was performed for the CYP17A1 gene. Multiplex ligation-dependent probe amplification was used to detect deletions in patients without point mutations in CYP17A1.Results: The median age at diagnosis was 14.0 (3.5-16.8) years. Nine of 13 (69.2%) had 46,XY karyotypes. All patients were phenotypically female and were raised as girls. The most common reasons for admission were the absence of puberty and amenorrhea (n=8, 61.5%), followed by hypertension (n=3, 23.0%) and family screening (n=2, 15.3%). At the time of diagnosis, hypertension was detected in 10 (76.9%) patients, and 11 (84.6%) patients had hypokalemia.Conclusions: 17OHD should be considered in patients with pubertal delay/primary amenorrhea, hypertension, and hypokalemia. Adrenal function should be included in the clinical study of hypergonadotropic hypogonadism, after excluding Turner syndrome, in all 46,XX females. Deletion in the CYP17A1, including exons 1-6, is the founder mutation for Turkey's East and Southeast regions.Öğe Prevalence and Predictive Clinical Characteristics of Metabolically Healthy Obesity in Obese Children and Adolescents(Springernature, 2023) Dundar, Ismail; Akinci, AysehanBackground: The increasing prevalence of childhood obesity and accompanying comorbidities all over the world constitutes one of the most important public health problems of the changing world. The frequency and causes of the metabolically healthy obesity (MHO) phenotype in children is not clear. Objective: The objective is to determine the prevalence of the MHO phenotype in obese Turkish children and adolescents and to identify clinical and biochemical indicators for this phenotype. Methods: Eight hundred forty-seven obese children and adolescents, aged 3-18 years with BMI-SDS >+2 SD from the obesity outpatient clinic were included. Demographic, anthropometric, and physical examination information was collected from patient medical files. In addition, obesity-related comorbidities and results of laboratory tests were obtained. For study purposes, obese patients with no cardiometabolic risk factors were accepted as MHO, and those with ???1 cardiometabolic risk factor were considered metabolically unhealthy obese (MUO). MHO was defined according to Damanhoury's criteria. Results: Out of 847 children (mean age 10.6??3.4 years) who met the study criteria, 289 (34.1%) were diagnosed with MHO. Being younger, prepubertal, having relatively low BMI, low waist/hip ratio, low insulin resistance (HOMA-IR) index, high high-density lipoprotein, low triglyceride, low fasting insulin and glucose levels, low uric acid and low alanine transaminase (ALT) levels were associated with MHO. Conclusions: The MHO phenotype was present in just over a third of this obese pediatric cohort. The most important factors associated with MHO; age, waist-hip ratio, and BMI were determined.Öğe Prevalence of type 2 diabetes mellitus, metabolic syndrome, and related morbidities in overweight and obese children(Walter De Gruyter Gmbh, 2022) Dundar, Ismail; Akinci, AysehanObjectives The aim of the study was to determine the prevalence of metabolic syndrome (MetS), type 2 diabetes mellitus (T2DM), and other comorbidities in overweight and obese children in Malatya, Turkey. Methods Retrospective cross-sectional study. We studied 860 obese and overweight children and adolescents (obese children Body mass index (BMI) >95th percentile, overweight children BMI >85th percentile) aged between 6 and 18 years. The diagnosis of MetS, impaired glucose tolerance (IGT), impaired fasting glucose (IFG), and T2DM were defined according to modified the World Health Organization criteria adapted for children. Other comorbidities were studied. Results Subjects (n=860) consisted of 113 overweight and 747 obese children of whom 434 (50.5%) were girls. MetS was significantly more prevalent in obese than overweight children (43.8 vs. 2.7%, p<0.001), and in pubertal than prepubertal children (41.1 vs. 31.7%, p<0.001). Mean homeostasis model assessment for insulin ratio (HOMA-IR) was 3.6 +/- 2.0 in the prepubertal and 4.9 +/- 2.4 in pubertal children (p<0.001). All cases underwent oral glucose tolerance test and IGT, IFG, and T2DM were diagnosed in 124 (14.4%), 19 (2.2%), and 32 (3.7%) cases, respectively. Insulin resistance (IR) was present in 606 cases (70.5%). Conclusions Puberty and obesity are important risk factors for MetS, T2DM, and IR. The prevalence of MetS, T2DM, and other morbidities was high in the study cohort. Obese children and adolescents should be carefully screened for T2DM, insulin resistance, hyperinsulinism, dyslipidemia, hypertension, IGT, and IFG. The prevention, early recognition, and treatment of obesity are essential to avoid associated morbidities.Öğe The relationship between autoimmunity and HbA1c in type 1(2021) Celik Ates, Dilvin; Akinci, Aysehan; Dundar, IsmailIndicators of increased risk for type 1 diabetes (T1DM) are specific antibodies that are mainly immune markers. Islet cell antibody (ICA), insulin autoantibody (IAA), glutamic acid decarboxylase enzyme antibody (GADA) and HgA1c are also used in the diagnosis and follow-up of patients with type 1 diabetes mellitus. ICA, IAA, GADA, HbA1c were checked at the time of diagnosis and at 6-month intervals in pediatric patients monitored with T1DM. Decreased ICA, GADA and HbA1c levels were evaluated as good blood glucose control and good clinical response. Patients aged ?5 years had a higher rate of IAA and patients aged >5 years had a higher rate of ICA. Antibody selection according to age during diabetes screening was found to be significant in terms of cost.Öğe Trend in initial presenting features of type 1 diabetes mellitus over a 24 year period in Turkey: a retrospective analysis of 814 cases(Turkish J Pediatrics, 2022) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Ciftci, Nurdan; Kayas, Leman; Nalbantoglu, OzlemBackground. The study aim was to examine changes in trends of presenting features during the diagnosis of patients followed up with newly diagnosed Type 1 diabetes mellitus (T1DM) over the past 24 years. Methods. The study was retrospective. Patients with a diagnosis of T1D between the years of 1996-2019 were included. Patients diagnosed in the first half of the period comprised Period I, and those from the second half comprised Period II. Patient data were extracted from medical records and included gender distribution, year of diagnosis, age at diagnosis, duration of symptoms, type of admission, frequency of diabetic ketoacidosis (DKA) and biochemical parameters. Subsequently, temporal changes in trends of these parameters were sought. Results. For the whole cohort the gender distribution was equal; 404 (49.6%) were girls and 410 (50.4%) were boys. Mean age at diagnosis was 8.5 +/- 4.2 years and age groupings at presentation were: 23.2% (n = 189) aged 0-4; 39.2% (n = 319) aged 5-9; 27.5% (n = 224) aged 10-13; 10.1% (n= 82) aged 14-18. At presentation 72 (12.7%) had hyperglycemia, 230 (40.6%) had diabetic ketosis, and 264 (46.6%) had DKA. In those with DKA, mild DKA was found in 103 (39.0%), moderate DKA in 81 (30.6%), and severe DKA in 80 (30.3%). While the frequency of DKA was 54.9% between 1996 and 2007 (Period I), this significantly decreased to 44.4% between 2008 and 2019 (Period II). Girls and boys had a similar rate of T1DM, and this did not change over time. Three peak ages of diagnosis were evident; 5-7, 8-10, 12-14 years of age. Conclusions. The frequency of DKA decreased and the frequency of admission with hyperglycemia and ketosis increased during the study period, which may have repercussions for mortality and morbidity rates and aid in improved treatment outcomes.Öğe Two Siblins and Three Cousins with Allgrove (4A) Syndrome in a Turkish Family: A Novel Mutation in the 'Aladin' Gene(Karger, 2018) Akinci, Aysehan; Dundar, Ismail; Camtosun, Emine; Kayas, Leman[Abstract Not Available]Öğe Type 1 Diabetes Incidence Trends in a Cohort of Turkish Children and Youth(Aves, 2023) Dundar, Ismail; Akinci, Aysehan; Camtosun, Emine; Kayas, Leman; Ciftci, Nurdan; Ozcetin, ErdenerObjective: The aim was to analyze the incidence trend and annual average incidence change of type 1 diabetes (T1DM) in the population <18 years of age in Malatya province. Materials and Methods: Medical files of patients followed up with T1DM in pediatric endocrinology clinics were reviewed. The data for the child census was taken from the Turkish Statistical Institute (TUIK), and T1DM incidence was analyzed according to the calendar year, gender, and age groups. Recently diagnosed T1DM patients per 100 000 children per year were calculated. In addition, the trend in annual incidence change over the period 2007-2019 was analyzed. Results: The mean incidence of T1DM during the 13 years was 13.1/105 child years (13.8/105 child years for girls and 12.4/105 child years for boys). During the 13-year follow-up period, a significant increasing trend in the incidence of T1DM was detected. The average annual percent change (AAPC) was 8.3%. According to age groups, the average AAPC was 8.1% between 0 and 4 years old, 9.4% between 5 and 9 years old, 12.1% between 10 and 14 years old, and 30.1% between 15 and 17 years old. Conclusion: The incidence of T1DM in children under 18 years of age in Malatya, one of the largest cities in the Eastern Anatolia region of Turkey, was determined as 13.1/105 child years in the last 13 years and the average annual increase rate was 8.3%.
