Browsing by Author "Sobu, Elif"
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Publication 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 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 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.