Browsing by Author "EREN, ERDAL"
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Publication A neurological disease mimicking central hypothyroidism: MCT8 deficiency(Karger, 2018-01-01) Demirbaş, Özgeçan; Eren, Erdal; Tarım, Ömer; DEMİRBAŞ, ÖZGECAN; EREN, ERDAL; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Bölümü; 0000-0002-6922-5203; 0000-0002-1684-1053; 0000-0002-5322-5508; JPK-3909-2023; GQX-9760-2022; CCU-8073-2022Publication Clinical and laboratory follow up of pediatric craniopharyngioma cases(Bursa Uludag Universitesi, 2020-12-01) Sobu, Elif; Eren, Erdal; Sevinir, Betul; Taşkapılıoğlu, M. Özgür; Tarim, Omer; EREN, ERDAL; Sevinir, Betul; SEVİNİR, BETÜL BERRİN; Tarım, Ömer; TARIM, ÖMER FARUK; Bursa Uludağ Üniveristesi/Tıp Fakültesi; 0000-0002-1684-1053; 0000-0002-3232-7652; 0000-0001-5472-9065; 0000-0002-5322-5508; GSN-9730-2022; JPK-3909-2023; AAH-1570-2021INTRODUCTION: The aim of this study was to evaluate the clinical and laboratory findings and follow up of endocrine status of pediatric craniopharyngioma cases.MATERIALS and METHODS: The patients diagnosed with craniopharyngioma between January 2010-December 2017 were included in this study. Demographic and clinical findings were retrospectively examined from medical records of Uludag University Medical Faculty Pediatric Endocinology Department. Statistical analyses were performed using the SPSS software version 21.RESULTS: We identified a total of 28 patients with craniopharyngioma during this period. The age of the patients ranged from 60 to 207 months, with a median age of 138.5 months. Fifty-three percent (n=15) of cases were male and forty-seven percent (n=13) of the cases were female. The most common presenting complaints were headache, visual impairment, and short stature in decreasing order. Tumor size was greater than 3 cm in 71% (n: 20) of patients at the time of diagnosis. When the endocrine status of the patients were examined in the preoperative period, it was determined that 17% (n: 5) of the cases had growth hormone deficiency, 14% (n: 4) had hypothyroidism, 10% (n: 3) had cortisol deficiency, and 7.1% (n: 2) had diabetes insipidus. In the postoperative period, panhypopituitarism developed in 89.3% (n: 25) of the cases.CONCLUSIONS: Craniopharyngiomas are slow-growing tumors, the tumor is usually diagnosed late and reaches large sizes. Late diagnosis and large tumor size often lead to more serious endocrine losses. Failure to thrive and progressive weight gain are stimulating findings for early diagnosis of pituitary masses.Publication Compound heterozygous variants in fam111a cause autosomal recessive kenny-caffey syndrome type 2(Galenos Publ House, 2023-03-01) Ceylaner, Serdar; Eren, Erdal; EREN, ERDAL; Ünlü, Havva Tezcan; Tarım, Ömer; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; 0000-0002-1684-1053; 0000-0002-0910-4258; 0000-0003-2786-1911; 0000-0002-5322-5508; GYU-0252-2022Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.Publication Evaluation of choroidal thickness in children with type 1 diabetes: The role of optical coherence tomography in diabetic retinopathy screening(Japanese Soc Pediatric Endocrinology, 2021-01-01) Ermerak, Basak Can; Yalcinbayir, Ozgur; YALÇINBAYIR, ÖZGÜR; Eren, Erdal; EREN, ERDAL; Erseven, Cansu; Sobu, Elif; Yucel, Ahmet Ali; YÜCEL, AHMET ALİ; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Oftalmoloji Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji Anabilim Dalı.; 0000-0002-7311-5277; 0000-0002-1684-1053; JAC-9459-2023; AAH-6226-2021; IYJ-9408-2023; GSN-9730-2022; AAH-6625-2021The present study aimed to evaluate choroidal changes and alternations within the structure of the retina prior to visible morphologic signs of diabetic retinopathy (DR) in pediatric type 1 diabetes (T1D) cases. Two hundred and six eyes of 103 pediatric patients with T1D without DR and 88 eyes of 44 healthy controls were enrolled. They underwent a comprehensive ophthalmic examination and optical coherence tomography evaluation. Choroidal thickness (ChT) measurements were performed manually on macular and peripapillary regions. There was no significant difference between the two groups in terms of age, intraocular pressure, and axial length (p > 0.05). ChT measurements of subfoveal, nasal, and temporal macula were slightly thinner in the diabetic group, and no statistical significance was found (p = 0.835, p = 0.305, and p = 0.054, respectively). Peripapillary ChT of eight sectors were also thinner in T1D; however, superonasal, nasal, inferonasal, and inferior sector values were significantly different (p = 0.010, p = 0.020, p = 0.019, and p = 0.018, respectively). In conclusion; this study demonstrated evidence of peripapillary choroidal thinning in pediatric diabetic patients without visible signs of retinopathy.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; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Endokrinolojisi Bilim Dalı.; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Kardiyoloji 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 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; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim 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 Growth curves for Turkish girls with Turner syndrome: Results of the Turkish Turner syndrome study group(Galenos Yayıncılık, 2015-04-21) Darendeliler, Feyza; Yeşilkaya, Ediz; Bereket, Abdullah; Baş, Firdevs; Bundak, Rüveyde; Sarı, Erkan; Aydın, Banu Küçükemre; Darcan, Şükran; Dündar, Bumin; Büyükinan, Muammer; Kara, Cengiz; Mazicioğlu, Mümtaz M.; Adal, Erdal; Akıncı, Ayşehan; Atabek, Mehmet Emre; Demirel, Fatma; Çelik, Nurullah; Özkan, Behzat; Özhan, Bayram; Orbak, Zerrin; Ersoy, Betül; Doğan, Murat; Ataş, Ali; Turan, Serap; Göksen, Damla; Tarım, Ömer; Yüksel, Bilgin; Ercan, Oya; Hatun, Sükrü; Şimşek, Enver; Ökten, Ayşenur; Abacı, Ayhan; Döneray, Hakan; Özbek, Mehmet Nuri; Keskin, Mehmet; Önal, Hasan; Akyürek, Nesibe; Bulan, Kezban; Tepe, Derya; Emeksiz, Hamdi Cihan; Demir, Korcan; Kızılay, Deniz; Topaloğlu, Ali Kemal; Eren, Erdal; Özen, Samim; Demirbilek, Hüseyin; Abalı, Saygın; Akın, Leyla; Eklioğlu, Beray Selver; Kaba, Sultan; Anık, Ahmet; Baş, Serpil; Ünüvar, Tolga; Sağlam, Halil; Bolu, Semih; Özgen, Tolga; Doğan, Durmuş; Çakır, Esra Deniz; Şen, Yaşar; Andiran, Nesibe; Çizmecioğlu, Filiz; Evliyaoğlu, Olcay; Karagüzel, Gülay; Pirgon, Özgür; Çatlı, Gönül; Can, Hatice Dilek; Gürbüz, Fatih; Binay, Çiğdem; Baş, Veysel Nijat; Sağlam, Celal; Gül, Davut; Polat, Adem; Açıkel, Cengizhan; Çınaz, Peyami; Can, Hatice Dilek; Doğan, Durmuş; Çakır, Esra Deniz; SAĞLAM, HALİL; EREN, ERDAL; TARIM, ÖMER FARUK; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-1684-1053; 0000-0003-0710-5422; 0000-0003-4664-7435; JHM-8761-2023; JPK-3909-2023; C-7392-2019; AID-3610-2022; GQO-9634-2022; IRJ-2200-2023Objective: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS.Methods: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated.Results: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others.Conclusion: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.Publication 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; Bursa Uludağ Üniversitesi/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 Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in gordon holmes syndrome(Endocrine Soc, 2014-10-01) Topaloğlu, A. Kemal; Lomniczi, Alejandro; Kretzschmar, Doris; Dissen, Gregory A.; Kotan, L. Damla; McArdle, Craig A.; Koç, A. Filiz; Hamel, Ben C.; Güçlü, Metin; Papatya, Esra D.; Eren, Erdal; Mengen, Eda; Gürbüz, Fatih; Cook, Mandy; Castellano, Juan M.; Kekil, M. Burcu; Mungan, Neslihan O.; Yüksel, Bilgin; Ojeda, Sergio R.; Güçlü, Metin; Papatya, Esra D.; EREN, ERDAL; Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji ve Metabolizma Anabilim Dalı; Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji ve Metabolizma Anabilim Dalı; 0000-0002-1684-1053; 0000-0003-4664-7435; ABI-4847-2020; GQO-9634-2022; JPK-3909-2023Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Objective: We aimed to provide insight into the disease mechanism in GHS.Methods: We studied a cohort of 6 multiplex families with GHS through autozygosity mapping and whole-exome sequencing.Results: We identified 6 patients from 3 independent families carrying loss-of-function mutations in PNPLA6, which encodes neuropathy target esterase (NTE), a lysophospholipase that maintains intracellular phospholipid homeostasis by converting lysophosphatidylcholine to glycerophosphocholine. Wild-type PNPLA6, but not PNPLA6 bearing these mutations, rescued a well-established Drosophila neurodegenerative phenotype caused by the absence of sws, the fly ortholog of mammalian PNPLA6. Inhibition of NTE activity in the L beta T2 gonadotrope cell line diminished LH response to GnRH by reducing GnRH-stimulated LH exocytosis, without affecting GnRH receptor signaling or LH beta synthesis.Conclusion: These results suggest that NTE-dependent alteration of phospholipid homeostasis in GHS causes both neurodegeneration and impaired LH release from pituitary gonadotropes, leading to nHH.Publication Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy(Aves, 2020-08-01) Altay, Canan; Seçil, Mustafa; Adıyaman, Süleyman Cem; Saydam, Başak Özgen; Demir, Tevfik; Akıncı, Gülçin; Şimşir, Ilgın Yıdırım; Eren, Erdal; Keskin, Ela Temeloğlu; Demir, Leyla; Onay, Hüseyin; Topaloğlu, Haluk; Yürekli, Banu Sarer; Kutbay, Nilüfer Özdemir; Gen, Ramazan; Akıncı, Barış; EREN, ERDAL; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-1684-1053; JPK-3909-2023Background/Aims: Lipodystrophy is a rare metabolic disorder characterized by a near-total or partial lack of subcutaneous adipose tissue and is associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy (MRS) imaging to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between liver fat accumulation and clinical presentations of lipodystrophy. Materials andMethods: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for the quantification of hepatic steatosis. All patients had metabolic abnormalities associated with insulin resistance. Metabolic parameters and the MRS findings were analyzed to identify potential correlations between liver fat content and disease severity.Results: The MRS fat ratios (MRS-FRs) were markedly higher, indicating severe hepatic steatosis in lipodystrophy. Patients with generalized and partial lipodystrophy had comparable levels of MRS-FRs, although patients with generalized lipodystrophy were significantly younger. Patients with genetic lipodystrophy had elevated MRS-FRs compared with those with acquired lipodystrophy (p=0.042). The MRS-FR was positively correlated with liver enzyme alanine aminotransferase (p=0.028) and serum adiponectin (p=0.043).Conclusion: Our data suggest that MRS might be an effective, non-invasive imaging method to quantify hepatic fat content in patients with lipodystrophy. Further studies are needed to validate the technique and threshold values, which would allow accurate comparison of data acquired by different machines and centers.Publication Mutation spectrum of GCK, HNF1A and HNF1B in MODY patients and 40 novel mutations(Nature Publishing Group, 2018-10-01) Özkınay, F.; Işık, E.; Şimşek, D. G.; Aykut, A.; Karaca, E.; Özen, S.; Bolat, H.; Atik, T.; Saygılı, F.; Kartal, E.; Gül, U.; Anik, A.; Tütüncüler, F.; Eren, Erdal; Özbek, M. N.; Bober, E.; Abacı, A.; Kirel, B.; Ersoy, B.; Büyükınan, M.; Kara, C.; Çakır, E. P.; Yıldırım, R.; İşgüven, P.; Dağdeviren, A.; Ağladıoğlu, S. Y.; Doğan, M.; Sangun, O.; Arslanoğlu, I.; Korkmaz, H. A.; Temiz, F.; Onay, H.; ÖZÇELİK, ENDER EREN; EREN, ERDAL; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri ve Endokrinoloji Bölümü; 0000-0002-1684-1053; JPK-3909-2023Publication Nationwide hypophosphatemic rickets study(Karger, 2018-01-01) Şıklar, Zeynep; Turan, Serap; Bereket, Abdullah; Abacı, Ayhan; Baş, Firdevs; Demir, Korcan; Güran, Tülay; Akberzade, Azad; Bober, Ece; Özbek, Mehmet Nuri; Kara, Cengiz; Poyrazoğlu, Şükran; Aydın, Murat; Kardelen, Aslı; Tarım, Ömer; Eren, Erdal; Hatipoğlu, Nihal; Büyükınan, Muammer; Akyürek, Nesibe; Çetinkaya, Semra; Bayramoğlu, Elvan; Eklioğlu, Beray Selver; Uçaktürk, Ahmet; Abalı, Saygın; Göksen, Damla; Kor, Yılmaz; Ünal, Edip; Esen, İhsan; Yıldırım, Ruken; Akın, Onur; Çay, Atilla; Dilek, Emine; Kirel, Birgül; Anik, Ahmet; Çatlı, Gönül; Berberoğlu, Merih; TARIM, ÖMER FARUK; EREN, ERDAL; 0000-0002-1684-1053; JPK-3909-2023; CCU-8073-2022Publication 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; Bursa Uludağ Üniversitesi/Tıp Fakültesi.; 0000-0002-9802-0880; 0000-0002-1684-1053; JPK-3909-2023; AAG-8385-2021; AAH-8355-2021Publication Pediatric patients with pheochromocytoma: Experience of a tertiary health center(Wiley, 2015-10-01) Eren, Erdal; Sağlam, Halil; Çalışkan, Yusuf; Kiriştioğlu, İrfan; Tarım, Ömer; EREN, ERDAL; SAĞLAM, HALİL; Çalışkan, Yusuf; KIRIŞTIOĞLU, İRFAN; TARIM, ÖMER FARUK; Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; 0000-0002-1684-1053; 0000-0002-6598-8262; 0000-0002-5322-5508; JPK-3909-2023; C-7392-2019; GLN-8241-2022; JPO-3445-2023; ITE-9417-2023; CCU-8073-2022BackgroundThe aim of this retrospective study was to investigate pheochromocytoma (pheo), which is a rare endocrine tumor in the pediatric population.MethodsThe medical records of five children with pheo were studied. The age, gender, clinical presentation, family history, physical findings, coexisting pathology, laboratory evaluation, surgical treatment, and postoperative course were investigated.ResultsThe patients were four girls and one boy with a mean age of 13.2years (range, 9.57-15.95years). None of the patients had paroxysmal hypertension and one had normal blood pressure. No malign pheo was identified. Mean height and weight standard deviation scores (SDS), body mass index (BMI), and BMI SDS were -0.24, 0.04, 20.9kg/m(2), and 0.20 at the time of diagnosis, and 0.03, 0.43, 23.8kg/m(2) and 0.49 1year after operation, respectively. BMI increased significantly after operation. Three patients had normal epinephrine and metanephrine, but elevated norepinephrine and normetanephrine on 24h urine. Vanillylmandelic acid on 24h urine sample was elevated in all patients. Ultrasonography failed to visualize tumors in two patients with bilateral pheo. One patient had postoperative severe hypotension. Insulin resistance associated with severe acanthosis nigricans observed in one patient regressed postoperatively.ConclusionsPheo in children may present with different symptoms and findings. Decreased catecholamine in the postoperative period may lead to weight gain.Publication Pituitary stalk interruption syndrome (psis) is not a rare cause of the congenital hypopituitarism(Karger, 2018-01-01) Eren, Erdal; Yazıcı, Zeynep; Demirbaş, Özgecan; Gülleroğlu, Nadide Başak; Tarım, Ömer; EREN, ERDAL; YAZICI, ZEYNEP; DEMİRBAŞ, ÖZGECAN; Gülleroğlu, Nadide Başak; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Endokrinoloji Bölümü; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Radyoloji Bölümü; 0000-0002-1684-1053; 0000-0002-6922-5203; 0000-0002-5322-5508; AAI-2303-2021; JPK-3909-2023; GQX-9760-2022; EZQ-1350-2022; CCU-8073-2022Publication Prevalence of obesity in prepubertal and pubertal with Turkish population type 1 diabetes(Springer, 2021-02-18) Özkaya, Volkan; Özgen Ozkaya, Sebnem; Eren, Erdal; EREN, ERDAL; Denkboy Ongen, Yasemin; DENKBOY ÖNGEN, YASEMİN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Endokrinoloji Anabilim Dalı.To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended the Pediatric Endocrinology Polyclinic and were diagnosed with type 1 DM were included in the study. Tanner staging was used to estimate pubertal status. Age- and gender-specific body mass index (BMI) percentile between 85 and 95% was accepted as overweight and > 95% as obese. It was determined that the overweight prevalence rates in children and adolescents with type 1 DM were 13.3% and the obesity rate was 14.3%. It was found that while the overweight prevalence rates (14.1%) were higher in males, the obesity prevalence was higher in females (19.0%). The obesity prevalence rates at the prepubertal and pubertal stages were found to be 17.1% and 13.8%, respectively. The obesity prevalence at the pubertal stage was higher in girls (22.4%) than boys (3.9%) (p < 0.05). The rates both of overweight and obesity in boys decreased from prepubertal to pubertal periods, while those rates increased in girls. Our results indicated that the obesity prevalence in prepubertal and pubertal children and adolescents with type 1 DM was higher compared to healthy peers in the literature. The authors believe that the risk factors for obesity in this population should be determined and obesity-prevention programs for diabetes should be prepared.Publication Psychomotor delay in a child with fgfr3 g380r pathogenic mutation causing achondroplasia(Thieme Medical Publication, 2021-05-21) Ergoren, Mahmut C.; Manara, Elena; Paolacci, Stefano; Tulay, Pinar; Bertelli, Matteo; Mocan, Gamze; Eren, Erdal; EREN, ERDAL; Sag, Sebnem O.; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Sehime Gulsun; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı.; 0000-0001-9593-9325; 0000-0002-1684-1053; 0000-0002-1176-3359; 0000-0002-9552-221X; 0000-0002-9802-0880; AAZ-6885-2021; AAY-1413-2020; GQP-2509-2022; JPK-3909-2023; D-8491-2018Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these patients. Fibroblast growth factor receptor 3 ( FGFR3 ) gene mutations are common causes of achondroplasia. The current study presents a case of 2-year-old male presenting with phenotypic characteristics of ACH. The interesting finding of the case is the presence of psychomotor delay that is not very common in these patients. Clinical exome sequencing analyzing 4.813 disease causing genes revealed a de novo c.1138G>A mutation within the FGFR3 gene. In conclusion, the mutation confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient.Publication Renal complications of lipodystrophy: A closer look at the natural history of kidney disease(Wiley, 2018-07-01) Akıncı, Barış; Ünlu, Sadiye Mehtat; çelik, Ali; Şimsir, Ilgın Yıldırım; Şen, Sait; Nur, Banu; Keskin, Fatma Ela; Saydam, Başak Özgen; Özdemir, Nilüfer Kutbay; Yurekli, Banu Sarer; Ergür, Bekir Uğur; Sönmez, Melda; Atık, Tahir; Arslan, Atakan; Demir, Tevfik; Altay, Canan; Tunç, Ulku Aybüke; Arkan, Tuğba; Gen, Ramazan; Eren, Erdal; Akıncı, Gülçin; Yiımaz, Aslıhan Araslı; Bilen, Habib; Özen, Samim; Çeltik, Aygül; Erdeve, Şenay Savaş; Çetinkaya, Semra; Onay, Hüseyin; Sarıoğlu, Sulen; Oral, Elif Arıoğlu; EREN, ERDAL; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı/Çocuk Endokrinolojisi Bilim Dalı; 0000-0002-1684-1053; JPK-3909-2023ObjectivesLipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports.Study designIn this multicentre study, prospective follow-up data were collected from 103 subjects with non-HIV-associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naive patients with lipodystrophy.MethodsMain outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR). Kidney volume was measured. Percutaneous renal biopsies were performed in 9 patients.ResultsSeventeen of 37 patients with generalized and 29 of 66 patients with partial lipodystrophy had CKD characterized by proteinuria, of those 12 progressed to renal failure subsequently. The onset of renal complications was significantly earlier in patients with generalized lipodystrophy. Patients with CKD were older and more insulin resistant and had worse metabolic control. Increased kidney volume was associated with poor metabolic control and suppressed leptin levels. Renal biopsies revealed thickening of glomerular basal membranes, mesangial matrix abnormalities, podocyte injury, focal segmental sclerosis, ischaemic changes and tubular abnormalities at various levels. Lipid vacuoles were visualized in electron microscopy images.ConclusionsCKD is conspicuously frequent in patients with lipodystrophy which has an early onset. Renal involvement appears multifactorial. While poorly controlled diabetes caused by severe insulin resistance may drive the disease in some cases, inherent underlying genetic defects may also lead to cell autonomous mechanisms contributory to the pathogenesis of kidney disease.Publication Retinitis pigmentosa in childhood: A case report(Galenos Yayincilik, 2008-06-01) Tığ, Ufuk Fiahin; Kendir, Fadime; Ayata, Ali; Eren, Erdal; EREN, ERDAL; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.; 0000-0002-1684-1053; JPK-3909-2023Retinitis pigmentosa (RP) is characterized by progressive loss of vision and accompanied by many syndromes. Therefore, early diagnosis is very important in RP. Now, definitive treatment of RP is not available. Diagnosis is performed with good medical history and ophthalmolojical examination. We present a patient with RP and describe diagnosis, treatment and approach to this disease.Publication Telemedicine experiences at a pediatric endocrinology clinic during the COVID-19 pandemic(Springer, 2021-06-07) Denkboy Öngen, Yasemin; Eren, Erdal; Şahin, Kadriye Cansu; Buhur Pirimoğlu, Meltem; Sağlam, Halil; Tarim, Ömer; DENKBOY ÖNGEN, YASEMİN; EREN, ERDAL; ŞAHİN, KADRİYE CANSU; BUHUR PİRİMOĞLU, MELTEM; SAĞLAM, HALİL; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Çocuk Endokrinolojisi Anabilim Dalı; 0000-0002-1684-1053; 0000-0002-6598-8262; 0000-0002-5657-4260; KHZ-1491-2024; JPK-3909-2023; GLN-8241-2022; CCU-8073-2022Background The coronavirus 19 (COVID-19) pandemic has affected all aspects of life, including the routine follow-up of patients with chronic illnesses. In this study, we aim to share our experience of telemedicine in our pediatric endocrinology clinic during the pandemic. Methods We were able to continue caring for children with endocrine disorders using various communication methods such as e-mail and e-message. Results A total of 267 patients received telemedicine care over the course of 608 contacts. The number of hospital visits and physical contact was effectively reduced to help protect against the COVID-19 infection. The patients were supported in terms of receiving their prescriptions and patient education also continued. No complications were observed. Conclusion The advantages and disadvantages of telemedicine were discussed and consequently, we propose that telemedicine can be utilized to maintain and continue the care of children with endocrine disorders during and even after the pandemic. Further studies are needed to standardize this method for general use.