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DEMİRBAŞ, ÖZGECAN

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DEMİRBAŞ

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ÖZGECAN

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2018 - 201932020 - 20233
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    Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency
    (Walter De Gruyter Gmbh, 2022-09-23) Eren, Erdal; Öngen, Yasemin Denkboy; Özgür, Taner; Özpar, Rıfat; Demirbaş, Özgecan; Yazıcı, Zeynep; Tarım, Ömer; EREN, ERDAL; DENKBOY ÖNGEN, YASEMİN; ÖZGÜR, TANER; ÖZPAR, RİFAT; DEMİRBAŞ, ÖZGECAN; YAZICI, ZEYNEP; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Radyolojisi Anabilim Dalı.; 0000-0002-1684-1053; 0000-0001-6649-9287; 0000-0002-6922-5203; 0000-0002-5322-5508; KHZ-1491-2024; JPK-3909-2023; AAH-5062-2021; AAI-2303-2021; FPE-9941-2022; GQX-9760-2022; CCU-8073-2022
    Objectives To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a diagnostic indicator of pituitary stalk pathologies. Methods Clinical, radiological, and laboratory features of the 50 cases of MPHD were studied. Results The median age at presentation of the 50 cases (52%, n=26 were female) was 6.61 (0.02-18.9) years. PSIS was detected in 60% (n=30), pituitary hypoplasia in 32% (n=16), partial empty sella in 6% (n=3), and only 2% (n=1) was reported as normal. Out of 50 patients, 21.3% (n=10) were hypoprolactinemic, 44.7% (n=19) were normoprolactinemic, and 34% (n=16) were hyperprolactinemic. The median PRL value was 27.85 (4.21-130) ng/mL in patients with PSIS and 5.57 (0-41.8) ng/mL in patients without PSIS. Additional hormone deficiencies, especially ACTH and LH were detected in follow-up. Conclusions Patients with normal or high prolactin levels deserve special attention regarding the possibility of PSIS. Furthermore, we emphasize the importance of regular follow-up and monitoring for multiple pituitary hormone deficiencies in all patients with a single pituitary hormone deficiency.
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    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-8073-2022
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    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-8073-2022
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    Evaluation of agp reports in patients with type 1 diabetes using intermittently viewed continuous glucose measurement system (icgm)
    (Karger, 2019-09-01) Eren, Erdal; EREN, ERDAL; Öngen, Yasemin Denkboy; DENKBOY ÖNGEN, YASEMİN; Demirbaş, Özgecan; DEMİRBAŞ, ÖZGECAN; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; 0000-0002-1684-1053; 0000-0002-6922-5203; 0000-0002-5322-5508; JPK-3909-2023
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    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-8073-2022
    Objective: 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.
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    A novel PHEX mutation in a case followed up with a diagnosis of X-linked hypophosphatemic rickets
    (Galenos Yayınevi, 2023-04-01) Demirbaş, Özgecan; Eren, Erdal; Öngen, Yasemin Denkboy; Sağ, Şebnem Özemri; Gürkan, Hakan; Temel, Şehime Gülsün; DEMİRBAŞ, ÖZGECAN; EREN, ERDAL; DENKBOY ÖNGEN, YASEMİN; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 0000-0002-6922-5203; 0000-0002-1684-1053; JPK-3909-2023; KHZ-1491-2024; GQX-9760-2022; IYV-1877-2023; IRT-7350-2023
    Introduction: X-linked hypophosphatemic is a result of a mutation which leads to loss of function in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. The case is here presented of a patient followed up for XLH rickets, with the formation of a stop code through frame-shifting mutation in the PHEX gene.Case Report: An 18-month old male infant presented at our clinic with the complaint of curvature in the legs. In the physical examination of the infant, height was measured as 78 cm (-1.67 SDS) and weight was 12.5 kg (0.52 SDS). Deformity was present in the frontal protusion, the wrist widths and the legs. Laboratory test results were determined as phosphorus: 2.3 mg/dL (n=3.5-4.7), calcium: 9.8 mg/dL (n=8.5-10.5), alkaline phosphatase (ALP) 707 IU/L (n=40-150), 25(OH) D vitamin:18 mu g/L (n=18-40), PTH: 79 pg/mL (n=15-68), and tubular phosphorus reabsorption was low (71%). Visualisation on wrist radiographs of collapse in the metaphyseal sections of the radus and ulna and metaphyseal irregularity. Conventional treatment was started. Next generation sequence analysis of the proband revealed the presence of a hemizygous c.281_288delTTCCCGAA (p.lle94ArgfsTER14) frameshift variant in PHEX gene. This novel variant is pathogenic according to the ACMG criteria, and not reported in any database before. While full-fill clinical recovery was not achieved with conventional treatment and some complications occured, Burosumab treatment was started.Conclusion: Here presented of a patient who was diagnosed with XLH, and was then determined with a novel mutation in the PHEX gene. The current treatment options directed at the basic pathology render genetic diagnosis more important in cases of hypophosphatemic rickets.