Browsing by Author "Aydogan, Berna Imge"

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    Distribution of RET Mutations and Evaluation of Treatment Approaches in Hereditary Medullary Thyroid Carcinoma in Turkey
    (2016) Aydogan, Berna Imge; Yuksel, Bagdagul; Tuna, Mazhar Muslum; Basaran, Mehtap Navdar; Kocaeli, Aysen Akkurt; Ertoner, Melek Eda; Aydin, Kadriye; Güldiken, Sibel; Simsek, Yasin; Karaca, Zuleyha Cihan; Yilmaz, Merve; Akkurt, Mujde; Anaforoglu, Inan; Kebapci, Nur; Duran, Cevdet; Taslipinar, Abdullah; Kulaksizoglu, Mustafa; Gursoy, Alptekin; Dagdelen, Selcuk; Erdogan, Murat Faik; 26758973
    Objective: This retrospective multicenter study, centrally conducted and supported by the Society of Endocrinology and Metabolism of Turkey, aimed to evaluate the impact of free RET proto-oncogene testing in medullary thyroid carcinoma (MTC) patients. Surgical timing, adequacy of the treatment, and frequency of prophylactic thyroidectomy (PTx) in mutation carriers were also assessed. Methods: Genetic testing for MTC and pheochromocytoma was conducted between July 2008 and January 2012 in 512 patients. Application forms and RET mutation analyses of these patients whose blood samples were sent from various centers around Turkey were assessed retrospectively. An evaluation form was sent to the physicians of the eligible 319 patients who had confirmed sporadic MTC, familial MTC (FMTC), multiple endocrine neoplasia type 2 (MEN2), or who were mutation carriers. Physicians were asked to give information about the surgical history, latest calcitonin levels, morbidity, mortality, genetic screening, and PTx among family members. Twenty-five centers responded by filling in the forms of 192 patients. Results: Among the 319 patients, RET mutation was detected in 71 (22.3%). Cys634Arg mutation was the most prevalent mutation (43.7%), followed by Val804Met in 18 patients (25.4%), and Cys634Tyr in 6 patients (8.5%). Among 192 MTC patients, the diagnosis was sporadic MTC in 146 (76.4%), FMTC in 14 (7.3%), MEN2A in 15 patients (7.9%), and MEN2B in one patient. The number of mutation carriers among 154 apparently sporadic MTC patients was 8 (5.2%). Ten patients were submitted to PTx out of twenty-four mutation carriers at a mean age of 35 +/- 19 years. Conclusion: Turkish people have a similar RET proto-oncogene mutation distribution when compared to other Mediterranean countries. Despite free RET gene testing, the number of the PTx in Turkey is limited and relatively late in the life span of the carriers. This is mainly due to patient and family incompliance and incomplete family counselling.
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    Identifying Clinical Characteristics of Hypoparathyroidism in Turkey: HIPOPARATURK-NET Study
    (2021) Degertekin, Ceyla Konca; Yavuz, Dilek Gogas; Pekkolay, Zafer; Saygili, Emre; Ugur, Kader; Koca, Arzu Or; Unubol, Mustafa; Topaloglu, Omercan; Aydogan, Berna Imge; Kutbay, Nilufer Ozdemir; Hekimsoy, Zeliha; Yilmaz, Nusret; Balci, Mustafa Kemal; Tanrikulu, Seher; Unsal, Yasemin Aydogan; Ersoy, Canan; Omma, Tulay; Keskin, Muge; Yalcin, Mehmet Muhittin; Yetkin, Ilhan; Soylu, Hikmet; Karakose, Melia; Yilmaz, Merve; Karakilic, Ersen; Piskinpasa, Hamide; Batman, Adnan; Akbaba, Gulhan; Elbuken, Gulsah; Bahadir, Cigdem Tura; Kilinc, Faruk; Bilginer, Muhammet Cuneyt; Iyidir, Ozlem Turhan; Canturk, Zeynep; Yilmaz, Banu Aktas; Sayiner, Zeynel Abidin; Eroglu, Mustafa; 34495356
    Hypoparathyroidism is an orphan disease with ill-defined epidemiology that is subject to geographic variability. We conducted this study to assess the demographics, etiologic distribution, treatment patterns and complication frequency of patients with chronic hypoparathyroidism in Turkey. This is a retrospective, cross-sectional database study, with collaboration of 30 endocrinology centers located in 20 cities across seven geographical regions of Turkey. A total of 830 adults (mean age 49.6 +/- 13.5 years; female 81.2%) with hypoparathyroidism (mean duration 9.7 +/- 9.0 years) were included in the final analysis. Hypoparathyroidism was predominantly surgery-induced (n = 686, 82.6%). The insulting surgeries was carried out mostly due to benign causes in postsurgical group (SG) (n = 504, 73.5%) while patients in nonsurgical group (NSG) was most frequently classified as idiopathic (n = 103, 71.5%). The treatment was highly dependent on calcium salts (n = 771, 92.9%), calcitriol (n = 786, 94.7%) and to a lower extent cholecalciferol use (n = 635, 76.5%) while the rate of parathyroid hormone (n = 2, 0.2%) use was low. Serum calcium levels were most frequently kept in the normal range (sCa 8.5-10.5 mg/dL, n = 383, 46.1%) which might be higher than desired for this patient group. NSG had a lower mean plasma PTH concentration (6.42 +/- 5.53 vs. 9.09 +/- 7.08 ng/l, p < 0.0001), higher daily intake of elementary calcium (2038 +/- 1214 vs. 1846 +/- 1355 mg/day, p = 0.0193) and calcitriol (0.78 +/- 0.39 vs. 0.69 +/- 0.38 mcg/day, p = 0.0057), a higher rate of chronic renal disease (9.7% vs. 3.6%, p = 0.0017), epilepsy (6.3% vs. 1.6%, p = 0.0009), intracranial calcifications (11.8% vs. 7.3%, p < 0.0001) and cataracts (22.2% vs. 13.7%, p = 0.0096) compared to SG. In conclusion, postsurgical hypoparathyroidism is the dominant etiology of hypoparathyroidism in Turkey while the nonsurgical patients have a higher disease burden with greater need for medications and increased risk of complications than the postsurgical patients.