Person: EREN, ERDAL
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EREN
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ERDAL
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Publication Two opposite phenotypes of glucose disorders in a family with heterozygous p.ser453leu (c.1358c> t) mutation in the glucokinase (gck) gene: Maturity onset diabetes in young and insulinoma(Editura Acad Romane, 2022-10-01) Demiral, Meliha; Çelebi, Hamide Betül Çelebi; Demirbilek, Hamza; CANDER, SONER; YERCİ, ÖMER; Yerci, Ömer; EREN, ERDAL; Eren, Erdal; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; 0000-0001-5218-7880; 0000-0002-1684-1053; 0000-0002-1684-1053; HUR-0563-2023; EGD-8703-2022; JPK-3909-2023Background. Heterozygous gain-of-function mutations in the glucokinase (GCK) gene cause hyperinsulinaemic hypoglycaemia (GCK-HI), while loss-of-function mutations lead to a monogenic type of diabetes (GCK-MODY). We, herein, report a heterozygous GCK gene mutation in a large family with GCK-MODY and insulinoma in one individual from the same family.Patients and methods. The proband, an 11-year-old male, was referred for asymptomatic mild hyperglycemia (fasting glucose:121 mg/dL) and HbA1c of 6.1%. Segregation analysis of the family revealed multiplex members with asymptomatic fasting hyperglycaemia or non-insulindependent diabetes and 33-year-old maternal uncle of the proband case had a history of distal pancreatectomy due to the diagnosis of insulinoma. His preoperative investigations were revealed fasting glucose of 31 mg/dL, insulin: 7 mu U/mL, C-peptide: 2.6 mg/dL, and a low HbA1c(4.0%) which was suggestive for recurring hypoglycaemia episodes. Post-pancreatectomy he developed mild fasting hyperglycemia (115-136 mg/dL).Results. Genetic analysis revealed heterozygous p.Ser453Leu(c.1358C> T) mutation in the GCK gene in the proband. In segregation analysis, the identical heterozygous p.Ser453Leu(c.1358C> T) GCK gene mutation was detected in all of the other affected family members for whom a DNA analysis was applicable. The maternal uncle was first diagnosed with insulinoma and underwent a pancreatectomy. He also had an identical mutation in a heterozygous state.Conclusion. We, to the best of our knowledge, firstly identified these two entirely distinct phenotypes of glucose metabolism, GCK-MODY and GCK-HI, due to an identical heterozygous p.Ser453Leu (c.1358C> T) mutation in the GCK. Further studies required to elucidate this new phenomenon and understanding the genotype-phenotype relationship of GCK gene mutations.Publication Evaluation of the endocrine functions in pediatric patients with cyanotic congenital heart disease(Scientific Publishers India, 2013-01-01) Eren, Erdal; Çakır, Esra Deniz Papatya; Bostan, Özlem; Sağlam, Halil; Tarım, Ömer; EREN, ERDAL; Çakır, Esra Deniz Papatya; BOSTAN, ÖZLEM MEHTAP; SAĞLAM, HALİL; TARIM, ÖMER FARUK; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; Çocuk Endokrinolojisi Bilim Dalı; 0000-0002-1684-1053; 0000-0003-4664-7435; 0000-0001-7707-2174; 0000-0002-6598-8262; 0000-0002-5322-5508; GQO-9634-2022; AAG-8558-2021; JPK-3909-2023; C-7392-2019; GLN-8241-2022; CCU-8073-2022Our aim was to investigate effects of chronic hypoxia on endocrine function in pediatric patients with cyanotic congenital heart disease (CHD). Thirty patients with cyanotic CHD (16 boys, 14 girls), and 35 control subjects (22 boys, 13 girls) were enrolled. Age means of patients and controls were 4.37 +/- 4.51 and 4.28 +/- 4.96 years, respectively. Standard deviation scores (SDS) of height and weight were significantly lower among patients compared to controls. Mean fasting glucose levels were 75 +/- 15 mg/dL and 83 +/- 12 mg/dL among patients and controls, respectively (p=0.033). Insulin-like growth factor (IGF) 1 and its SDS were significantly lower among patients (p=0.010). There was no significant difference in ACTH and cortisol levels between groups. ACTH levels were very low in six patients. Oxygen saturation level was positively correlated with ACTH (p=0.041, r=0.439) and negatively correlated with HOMA-IR (p=0.046, r=-0.420) and insulin (p=0.017, r=-0.494). There was no difference in insulin resistance between groups. Chronic hypoxia has negative impact on growth by reducing IGF-1 along with the nutritional deficiency in children with cyanotic CHD. ACTH-adrenal axis is also affected. While cyanotic CHD has decreased serum glucose level, it had no effect on insulin level and insulin resistance. Negative correlations between oxygen saturation, and HOMA-IR, fasting insulin levels, have suggested that these patients should be monitorized for insulin resistance.Publication The efficiency of the triple p program for parents of children with type-1 diabetes(Galenos Yayınevi, 2020-12-01) Arkan, Burcu; Vural, Ayse Pinar; Eray, Safak; Eren, Erdal; ARKAN, BURCU; VURAL, AYŞE PINAR; ERAY ÇAMLI, ŞAFAK; EREN, ERDAL; Tıp Fakültesi; Çocuk Psikiyatrisi Ana Bilim Dalı; Endokrinoloji Bilim Dalı; 0000-0002-4847-7751; 0000-0002-1684-1053; 0000-0002-7285-6196; 0000-0002-3358-0019; C-8761-2017; JPK-3909-2023; AAG-8101-2021; E-6291-2017; CEM-2787-2022Aim: The aim of this study was to investigate the effect of the Triple P-Positive Parenting Training Program, which was applied to the parents of children and adolescents with a type 1 diabetes (T1D) diagnosis aged 3-12 years, on parental attitude, parental mental health, and child behaviour.Materials and Methods: This research was conducted in a quasi-experimental manner. The sample of the research consisted of 32 parents who had children with a T1D diagnosis aged 3-12 years and who agreed to participate in the study. Data were collected using the Family Background Questionnaire, General Health Questionnaire, Strengths and Difficulties Questionnaire, Parental Attitude Research Instrument, Conflict Behaviour Questionnaire and Parent Satisfaction Questionnaire. The Group Triple P Programme was implemented with all groups for 8 weeks. Data were collected immediately after the programme. Data were evaluated by using multidirectional variance analysis, t-test and chi-square test.Results: It was shown that the Group Triple P applied to the parents of those children with a T1D diagnosis positively affects the mental health of the parents, their parental attitudes and the problematic behaviour of their children and also that the parents had less conflict with their children and the children had less conflict with their parents.Conclusion: It is suggested that further studies are carried out in different centres and cities with the Group Triple P Programme to widen the use of the Group Triple P Programme and also to plan future research where the Group Triple P programme and other programmes currently used in country can be compared.Publication Clinical and laboratory characteristics of the children with diabetic ketoacidosis(Galenos Yayıncılık, 2008-12-01) Sağlam, Halil; Eren, Erdal; Çakır, Esra Deniz; Yüce, Necla; Yıldız, Nalan; Çakır, Seher; Özgür, Taner; Tarım, Ömer; SAĞLAM, HALİL; EREN, ERDAL; Çakır, Esra Deniz; Yüce, Necla; Yıldız, Nalan; Çakır, Seher; ÖZGÜR, TANER; TARIM, ÖMER FARUK; Tıp Fakültesi; Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı; 0000-0002-6598-8262; 0000-0002-1684-1053; 0000-0003-4664-7435; 0000-0003-0710-5422; C-7392-2019; JPK-3909-2023; GQO-9634-2022; JKN-1212-2023; IPY-4170-2023; EPI-7647-2022; AAG-8381-2021; EBM-1323-2022Aim: Diabetic ketoacidosis (DKA) is a serious condition with the highest rates of morbidity and mortality in children with type 1 diabetes mellitus (T1 DM). Hospitalization due to DKA constitutes about 2 to 8 percent of all-cause admissions. About 25% of children with newly diagnosed T1DM present with DKA. In this study, we aimed to evaluate sociodemographic and clinical characteristics of children admitted with DKA.Materials and Method: Records of 490 children admitted with T1DM between January 2003 and October 2008 were retrospectively reviewed and data on sociodemographic, clinical and laboratory characteristics of 163 children with the diagnosis of DKA was investigated in detail.Results: Of 490 children with T1DM, 163 (33.2%) had the diagnosis of DKA and total number of DKA episodes was 190. The recurrence rate was 14.2% and 85% (6 out of 7) of those with recurrent episodes were girls. The mean age was 11.02 4.57 years and DKA episodes were most frequently seen in 10-15 (39.3) age-group. DKA episodes peaked in the periods of January-February-March and children (i.e, 0-5 age group) (54 5%) The mean duration of recoveiy from acidosis was 14.29+/-12.14 hours the mean blood glucose level at baseline was 473.09 +/- 141,07 mg/dI and the mean initial HbAl c level vvas 12.04+/-2.42%, In this approximately six-year-penod, only one patient was lost and the mortality rate was 0,5% (1 tit of 190 episodes).Conclusion: Increasing the knowledge of primary care physicians who see the patients first on DKA and al3plying the DKA treatment protocol more slowly and cautiously in younger children (0-5 age group) will definitely loldver the morbidity and mortalibt of DKA.Publication Genotype and phenotype heterogeneity in neonatal diabetes: A single centre experience in Turkey(Galenos Yayıncılık, 2021-03-01) Öngen, Yasemin Denkboy; Eren, Erdal; Demirbaş, Özgecan; Sobu, Elif; Ellard, Sian; De Franco, Elisa; Tarım, Ömer; DENKBOY ÖNGEN, YASEMİN; EREN, ERDAL; DEMİRBAŞ, ÖZGECAN; Sobu, Elif; TARIM, ÖMER FARUK; Tıp Fakültesi; Çocuk Endokrinolojisi Ana Bilim Dalı; 0000-0002-5657-4260; 0000-0002-1684-1053; 0000-0002-6922-5203; 0000-0002-2037-7046; 0000-0002-5322-5508; KHZ-1491-2024 ; JPK-3909-2023; GQX-9760-2022 ; GSN-9730-2022; CCU-8073-2022Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center.Methods: A total of 16 NDM patients from 12 unrelated families are included in the study. The clinical presentation, age at diagnosis, perinatal and family history, consanguinity, gender, hemoglobin A1c, C-peptide, insulin, insulin autoantibodies, genetic mutations, and response to treatment are retrospectively evaluated.Results: The median age at diagnosis of diabetes was five months (4 days-18 months) although six patients with a confirmed genetic diagnosis were diagnosed >6 months. Three patients had KCNJ11 mutations, six had ABCC8 mutations, three had EIF2AK3 mutations, and one had a de novo INS mutation. All the permanent NDM patients with KCNJ11 and ABCC8 mutations were started on sulfonylurea treatment resulting in a significant increase in C-peptide level, better glycemic control, and discontinuation of insulin.Conclusion: Although NDM is defined as diabetes diagnosed during the first six months of life, and a diagnosis of type 1 diabetes is more common between the ages of 6 and 24 months, in rare cases NDM may present as late as 12 or even 24 months of age. Molecular diagnosis in NDM is important for planning treatment and predicting prognosis. Therefore, genetic testing is essential in these patients.Publication yPsychomotor delay in a child with Achondroplasia(Springernature, 2019-07-01) Ergoren, M. C.; Aliyeva, L.; Eren, E.; Manara, E.; Paolacci, S.; Mocan, G.; Temel, S. G.; Bertelli, M.; ALIYEVA, LAMIYA; EREN, ERDAL; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; JPK-3909-2023; AAG-8385-2021; CCG-4609-2022Publication Effect of experimentally induced hypothyroidism during gestation period on activity dependent neurotrophic factor (ADNF) in newborn rat brain tissue(Walter de Gruyter Gmbh, 2018-12-01) Cesur, Gökhan; Eren, Mehtap Kılıç; Eren, Erdal; Ergin, Kemal; Ek, Rauf Onur; Yıldız, Yüksel; Şirinyıldız, Ferhat; Balci, Umut Gök; Ongel, Kurtuluş; EREN, ERDAL; Tıp Fakültesi; Çocuk Endokrinolojisi Ana Bilim Dalı; 0000-0002-1684-1053 ; JPK-3909-2023Purpose: The aim of the study was to evaluate the effects of prenatal hypothyroidism on neonatal rats by the way of activity-dependent neuroprotective factor (ADNF) expression.Methods: Twenty-one Wistar albino neonatal rats were divided into two subgroups; a control group and neonatal rats with experimental maternal hypothyroidism. Hypothyroidism was induced by using propylthiouracil (PTU). Neonatal rats obtained PTU from breast milk continuously for 1 week after birth. The rats from the control group were fed only normal feed and water. After birth, body weight and blood thyroid hormone levels were tested. Glial fibrillary acidic protein (GFAP), Slug, Numb, Notch-1 and ADNF antibodies were used for immunohistochemical analysis. Real-time polymerase chain reaction (RT-PCR) and Western blotting analyses were used to evaluate ADNF gene expression levels from 1-week-old rat's brain.Results: There was no difference between the two groups for birth weights. The thyroxine (T4) level from the experimental group was <0.4 ng/mL, and it was 0.8 ng/mL for the control group. It was shown that, the results from the experimental group samples had significantly lower ADNF mRNA levels than control group (p < 0.05). The increase from GFAP and Numb expression and decrease from Slug expression were shown in the experimental group. Local differences were identified for ADNF and a decrease was shown in both sides of brain. There was no difference for Notch-1 expression for both groups.Conclusion: In this study, decreasing ADNF expression might contribute to developing neurological problems in congenital hypothyroidism.Publication Novel homozygous missense mutation in NARS1 gene: A new neurodevelopmental disorder with microcephaly(Springernature, 2022-04-01) Temel, Sehime Gülsün; Sağ, Şebnem Özemri; Eren, Erdal; Deniz, Engin; TEMEL, ŞEHİME GÜLSÜN; ÖZEMRİ SAĞ, ŞEBNEM; EREN, ERDAL; Tıp Fakültesi; 0000-0002-9802-0880; 0000-0002-1684-1053; JPK-3909-2023; AAG-8385-2021; AAH-8355-2021Publication Liver involvement in congenital hypopituitarism(Springer India, 2019-05-01) Altay, Derya; Eren, Erdal; EREN, ERDAL; Özkan, Tanju Başarır; Özgür, Taner; ÖZGÜR, TANER; Tarım, Ömer; TARIM, ÖMER FARUK; Tıp Fakültesi; 0000-0002-1684-1053; 0000-0001-5740-9729; 0000-0002-5322-5508; AAG-8381-2021; AAG-8416-2021; JPK-3909-2023ObjectiveCholestatic jaundice in early infancy is a complex diagnostic challenge. Cholestasis caused by endocrine disease is rare and poorly recognized. The aim of this paper is to report patients with liver dysfunctions resulting from hypopituitarism.MethodsSix patients with liver dysfunction diagnosed as hypopituitarism were studied and followed up atUludag University Faculty of Medicine.ResultsThe median age of the patients at first presentation was 2.5 mo. Three patients were diagnosed with congenital hypopituitarism at the first visit, and the other three were diagnosed during follow-up. Serum aminotransferase levels were very high in two patients and only moderately elevated in the others. Combined adrenal, thyroid, and growth hormone deficiencies were diagnosed in two patients, while remaining 4 patients had various combinations of adrenal, thyroid, and growth hormone deficiencies. Liver function abnormalities resolved between 10 d and 2 mo follow-up after hormone replacement therapy.ConclusionsAbnormal liver biochemical test results due to hormonal deficiencies in infants should be considered in the differential diagnosis by pediatricians. Hormone replacement therapy is the basis of treatment.Publication Turner syndrome and associated problems in Turkish children: A multicenter study(Galenos Yayıncılık, 2015-03-01) Yeşilkaya, Ediz; Bereket, Abdullah; Darendeliler, Feyza; Bas, Firdevs; Poyrazoğlu, Şükran; Aydın, Banu Kuçükkemre; Darcan, Sukran; Dündar, Bumin; Büyükınan, Muammer; Kara, Cengiz; Sarı, Erkan; Adal, Erdal; Akınciı Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Celik, Nurullah; Ozkan, Behzat; Ozhan, Bayram; Orbak, Zerrin; Ersoy, Betul; Dogan, Murat; Atas, Ali; Turan, Serap; Goksen, Damla; Tarim, Omer; Yuksel, Bilgin; Ercan, Oya; Hatun, Sukru; Simsek, Enver; Okten, Aysenur; Abaci, Ayhan; Doneray, Hakan; Ozbek, Mehmet Nuri; Keskin, Mehmet; Onal, Hasan; Akyurek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kizilay, Deniz; Topaloglu, Ali Kemal; Eren, Erdal; Ozen, Samim; Abali, Saygin; Akin, Leyla; Eklioglu, Beray Selver; Kaba, Sultan; Anik, Ahmet; Bas, Serpil; Unuvar, Tolga; Saglam, Halil; Bolu, Semih; Ozgen, Tolga; Dogan, Durmus; Cakir, Esra Deniz; Sen, Yasar; Andiran, Nesibe; Cizmecioglu, Filiz; Evliyaoglu, Olcay; Karaguzel, Gulay; Pirgon, Ozgur; Catli, Gonul; Can, Hatice Dilek; Gurbuz, Fatih; Binay, Cigdem; Bas, Veysel Nijat; Fidanci, Kursat; Polat, Adem; Gul, Davut; Acikel, Cengizhan; Demirbilek, Huseyin; Cinaz, Peyami; Bondy, Carolyn; TARIM, ÖMER FARUK; EREN, ERDAL; SAĞLAM, HALİL; Doğan, Durmuş; Çakır, Esra Deniz; Tıp Fakültesi; Pediatri Endocrinoloji Bölümü; 0000-0002-1684-1053; 0000-0003-0710-5422; JHM-8761-2023; JPK-3909-2023; C-7392-2019; AID-3610-2022; GQO-9634-2022Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population.Methods: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014.Results: The most common karyotype was 45, X (50.7%), followed by 45, X/46, XX (10.8%), 46, X, i(Xq) (10.1%) and 45, X/46, X, i(Xq) (9.5%). Mean age at diagnosis was 10.2 +/- 4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45, X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%.Conclusion: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.