23 results on '"Akinci, Aysehan"'
Search Results
2. Chronic Disease Management of Children Followed with Type 1 Diabetes Mellitus
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Guven Baysal, Senay, primary, Ciftci, Nurdan, additional, Dundar, Ismail, additional, Buyukavcı, Mehmet Akif, additional, Yagin, Fatma Hilal, additional, Camtosun, Emine, additional, Gumuş Dogan, Derya, additional, and Akinci, Aysehan, additional
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- 2023
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3. A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene
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Dundar, Ismail, primary, Camtosun, Emine, additional, Dogan, Mustafa, additional, Kayas, Leman, additional, Ciftci, Nurdan, additional, and Akinci, Aysehan, additional
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- 2022
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4. Evaluation of endocrine functions before and after enzyme replacement therapy in children with mucopolysaccharidosis
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Dundar, Ismail, primary, Ciftci, Nurdan, additional, Akinci, Aysehan, additional, Camtosun, Emine, additional, Kayas, Leman, additional, Sigirci, Ahmet, additional, and Yagin, Fatma, additional
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- 2022
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5. Treatment and follow-up of coronary artery disease in a child with homozygous familial hypercholesterolemia
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Oncul, Mehmet, primary, Karakurt, Cemsit, additional, Elkiran, Ozlem, additional, Akinci, Aysehan, additional, and Erdil, Nevzat, additional
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- 2022
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6. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
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Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P., and Achermann, John C.
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- 2016
7. A Chryseobacterium Meningosepticum Outbreak in a Neonatal Ward
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Güngör, Serdal, Özen, Metehan, Akinci, Aysehan, and Durmaz, Riza
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- 2003
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8. The Association Between Anthropometric Findings and Hormonal Values in Obese and Overweight Children
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Botan, Edin, primary and Akinci, Aysehan, additional
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- 2021
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9. The relationship between autoimmunity and HbA1c in type 1 diabetes mellitus patients
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Ates, Dilvin, primary, Akinci, Aysehan, additional, and Dundar, Ismail, additional
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- 2021
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10. The treatment of severe pain in melorheostosis with daily walking program only: a case report
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Akinci, Aysehan, primary, Dundar, Ismail, additional, and Sigirci, Ahmet, additional
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- 2017
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11. Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort
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Bolu, Semih, Ozhan, Bayram, Ucar, Ahmet, Demirbilek, Huseyin, Yavas Abali, Zehra, Bas, Firdevs, Berberoglu, Merih, Hacihamdioglu, Bulent, Achermann, John C., Eren, Erdal, Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Özen, Samim, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Darcan, Sukran, Bideci, Aysun, Turan, Serap, Guven, Ayla, Tarim, Omer, ÖZGEN, İLKER TOLGA, Agladioglu, Sebahat Yilmaz, Isik, Emregul, Atay, Zeynep, Demir, Korcan, Akinci, Aysehan, Gurbuz, Fatih, Kucukemre Aydin, Banu, Buyukinan, Muammer, Yuksel, Bilgin, Doger, Esra, Yildiz, Metin, Akcay, Teoman, Kara, Cengiz, Catli, Gonul, and ÖZGEN, İLKER TOLGA
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Molecular and Clinical Characterisation of a Nationwide Cohort-, 54th Annual meeting of ESPE, Barcelona, İspanya, 01 October 2015 [Guran T., Buonocore F., Saka N., Ozbek M. N. , Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Turan S., et al., -Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia] - Published
- 2015
12. Bisphosphonate treatment of melorheostosis: A case report
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Akinci, Aysehan, primary, Dundar, Ismail Dundar, additional, and Sigirci, Ahmet, additional
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- 2015
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13. AChryseobacterium meningosepticumOutbreak in a Neonatal Ward
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Güngör, Serdal, primary, Özen, Metehan, additional, Akinci, Aysehan, additional, and Durmaz, Riza, additional
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- 2003
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14. Left Ventricular Dysfunction Due to Hypocalcemia in a Neonate.
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KARADEMIR, Selmin, primary, ALTUNTAS, Buket, additional, TEZIC, Tahsin, additional, AKINCI, Aysehan, additional, and DEMIRCEKEN, Fulya, additional
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- 1993
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15. Dilated Cardiomyopathy with Recurrent Intraventricular Thrombosis.
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ARSLAN, Zafer, primary, TEZIC, Tahsin, additional, AKINCI, Aysehan, additional, GUR, Inci, additional, HASPOLAT, Edip, additional, and KARADEMIR, Selmin, additional
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- 1992
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16. A Chryseobacterium meningosepticumOutbreak in a Neonatal Ward
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Güngör, Serdal, Özen, Metehan, Akinci, Aysehan, and Durmaz, Riza
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AbstractObjective:To report epidemiologic, bacteriologic, and clinical features of a Chryseobacterium meningosepticumoutbreak.Design:Outbreak investigation.Setting:A neonatal intensive care unit (NICU) of a referral teaching hospital.Methods:During 2 weeks in September 2001, four neonates in the NICU developed sepsis and underwent laboratory investigation. Multiple samples were obtained for cultures from endotracheal tubes, mechanical ventilators and humidifier boxes, infant incubators, parenteral and antiseptic solutions, feeding bottles, sinks, faucets, doors, and healthcare workers.Results:C. meningosepticumwas isolated from the blood cultures of four patients. The first isolate was identified 5 days after the death of the index case. Although all isolates were ciprofloxacin susceptible in vitro, the remaining three patients did not respond to ciprofloxacin therapy given for 6 or 7 days. Therapy was switched to vancomycin and rifampin and all three patients survived, with one having a complication (hydrocephalus). Environmental surveillance revealed C. meningosepticumin the stock lipid solution as the source of the epidemic. The outbreak was controlled after discontinuation of intravenous lipid solution, restriction of further neonatal admissions, and thorough disinfection of the unit and its equipment.Conclusion:Early identification of an epidemic and its source is important in avoiding morbidity and mortality. A contaminated lipid stock bottle was the source of this outbreak associated with multiple cases and one death.
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- 2003
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17. Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants
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Feyza Darendeliler, Fatih Gurbuz, Murat Aydin, Ayşehan Akıncı, Zerrin Orbak, Mehmet Nuri Ozbek, Enver Simsek, Tulay Guran, Başak Tezel, Alev Ozon, Filiz Mine Çizmecioğlu, Mehmet Keskin, Cengiz Kara, Murat Cakir, Selver Eklioğlu B, Nihal Hatipoglu, Gülay Karagüzel, Firdevs Bas, Guran, Tulay, Tezel, Basak, Cakir, Meltem, Akinci, Aysehan, Orbak, Zerrin, Keskin, Mehmet, Eklioglu, Beray Selver, Ozon, Alev, Ozbek, Mehmet Nuri, Karaguzel, Gulay, Hatipoglu, Nihal, Gurbuz, Fatih, Cizmecioglu, Filiz Mine, Kara, Cengiz, Simsek, Enver, Bas, Firdevs, Aydin, Murat, and Darendeliler, Feyza
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Male ,Pediatrics ,Turkey ,endocrine system diseases ,Endocrinology, Diabetes and Metabolism ,Pilot Projects ,11 beta-hydroxylase deficiency ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,0302 clinical medicine ,Endocrinology ,Gestational Weeks ,neonatal screening ,Dried blood ,education.field_of_study ,lcsh:RJ1-570 ,Slight change ,11β-hydroxylase deficiency ,Original Article ,Female ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Pediatric endocrinology ,Birth weight ,Population ,030209 endocrinology & metabolism ,03 medical and health sciences ,030225 pediatrics ,medicine ,Humans ,congenital adrenal hyperplasia ,Congenital adrenal hyperplasia ,education ,Retrospective Studies ,lcsh:RC648-665 ,Adrenal Hyperplasia, Congenital ,business.industry ,Infant, Newborn ,Infant ,Correction ,nutritional and metabolic diseases ,lcsh:Pediatrics ,medicine.disease ,Early Diagnosis ,Pediatrics, Perinatology and Child Health ,steroid profiling ,incidence ,Diagnostic assessment ,second-tier ,business ,Program Evaluation - Abstract
Objective: Turkish Directorate of Public Health introduced the first pilot screening program for congenital adrenal hyperplasia (CAH) in four Turkish cities in 2017, and in 2018 extended the program, with a slight change in screening strategy, to fourteen cities. To evaluate the performance of the extended study and update previously reported outcomes. Methods: Retrospective, descriptive study. Neonates of >= 32 gestational weeks and >= 1500 gr birth weight from fourteen cities, born between May-December 2018, were included. Screening protocol included one sample, two-tier testing as applied in the previous pilot study. In the first step, 17 alpha-hydroxyprogesterone (17-OHP) was measured by fluoroimmunoassay in dried blood spots (DBS) obtained at 3-5 days of life. Cases with positive initial screening underwent second tier testing by steroid profiling in DBS using liquid chromatography-tandem mass spectrometry to measure 17-OHP, 21-deoxycortisol (21-S), cortisol (F), 11-deoxycortisol and androstenedione. The babies with a steroid ratio (21-S+ 17-OHP)/F of >= 0.7 (increased from >= 0.5 in the earlier pilot study) were referred to pediatric endocrinology clinics for diagnostic assessment. Results: In the evaluated period, 241,083 newborns were screened. 12,321 (5.11 %) required second-tier testing and 880 (0.36 %) were referred for clinical assessment, twenty of whom were diagnosed with CAH (10 females, 10 males). Sixteen were diagnosed as classical 21-hydroxylase deficiency (21-OHD) CAH (12 with salt-wasting and four with simple virilising CAH), and four cases were identified with 11 beta-OHD CAH. No case of salt-wasting CAH was missed by neonatal screening (sensitivity was 100 %). The incidence of classical 21-OHD and 11 beta-OHD in the screened population was 1:15,067 and 1:60,270, respectively. Conclusion: Turkish neonatal CAH screening effectively led to earlier diagnosis of 21-OHD and 11 beta-OHD, using steroid profiling as a second-tier test. This will result in improved care of these patients in the future.
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- 2020
18. Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey
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Ömer Tarım, Aylin Kılınç Uğurlu, Hüseyin Anıl Korkmaz, Serap Turan, Emine Demet Akbaş, Esra Döğer, Zeynep Atay, Sezer Acar, Mehmet Emre Atabek, Serpil Bas, Ayhan Abaci, Ayça Törel Ergür, Melek Yildiz, Halil Saglam, Oya Ercan, Tulay Guran, Eda Celebi Bitkin, Ulku Gul, Zeynep Şıklar, Merih Berberoğlu, Eda Mengen Uçaktürk, Abdullah Bereket, Edip Unal, Elif Söbü, Firdevs Bas, Servet Yel, Ayşehan Akıncı, Enver Simsek, Erdal Eren, Şükriye Pınar İşgüven, OMÜ, Kırıkkale Üniversitesi, Eren, Erdal, Ergur, Ayca Torel, Isguven, Sukriye Pinar, Bitkin, Eda Celebi, Berberoglu, Merih, Siklar, Zeynep, Bas, Firdevs, Yel, Servet, Bas, Serpil, Sobu, Elif, Bereket, Abdullah, Turan, Serap, Saglam, Halil, Atay, Zeynep, Ercan, Oya, Guran, Tulay, Atabek, Mehmet Emre, Korkmaz, Huseyin Anil, Ugurlu, Aylin Kilinc, Akinci, Aysehan, Doger, Esra, Simsek, Enver, Akbas, Emine Demet, Abaci, Ayhan, Gul, Ulku, Acar, Sezer, Ucakturk, Eda Mengen, Yildiz, Melek, Unal, Edip, Tarim, Omer, İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Eren, E, Ergur, AT, Isguven, SP, Bitkin, EC, Berberoglu, M, Siklar, Z, Bas, F, Yel, S, Bas, S, Sobu, E, Bereket, A, Turan, S, Saglam, H, Atay, Z, Ercan, O, Guran, T, Atabek, ME, Korkmaz, HA, Ugurlu, AK, Akinci, A, Doger, E, Simsek, E, Akbas, ED, Abaci, A, Gul, U, Acar, S, Ucakturk, EM, Yildiz, M, Unal, E, Tarim, O, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, İşgüven, Şükriye Pınar, and Çukurova Üniversitesi
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Male ,Pediatrics ,Turkey ,Endocrinology, Diabetes and Metabolism ,lcsh:Diseases of the endocrine glands. Clinical endocrinology ,surgery ,0302 clinical medicine ,Endocrinology ,Surveys and Questionnaires ,030212 general & internal medicine ,Child ,microadenomas ,lcsh:RJ1-570 ,Prognosis ,Gynecomastia ,Child, Preschool ,OBESITY ,Cohort ,cabergoline ,Female ,Original Article ,macroadenomas ,medicine.symptom ,Headaches ,medicine.drug ,Adenoma ,Galactorrhea ,medicine.medical_specialty ,prolactin ,Adolescent ,030209 endocrinology & metabolism ,Short stature ,03 medical and health sciences ,children ,Cabergoline ,medicine ,Humans ,Retrospective Studies ,lcsh:RC648-665 ,business.industry ,Infant ,lcsh:Pediatrics ,medicine.disease ,PROLACTIN RECEPTOR ,Bromocriptine ,Hyperprolactinemia ,Pituitary ,Pediatrics, Perinatology and Child Health ,Etiology ,business ,MACROPROLACTINOMAS ,Biomarkers ,Follow-Up Studies - Abstract
siklar, zeynep/0000-0003-0921-2694; Eren, Erdal/0000-0002-1684-1053; Turan, Serap/0000-0002-5172-5402; Bas, Firdevs/0000-0001-9689-4464; Ercan, Oya/0000-0001-7397-2837; Bas, Serpil/0000-0001-6210-4807; berberoglu, merih/0000-0003-3102-0242; Torel Ergur, Ayca/0000-0002-7792-1727; Yel, Servet/0000-0001-6889-4504; Mengen, Eda/0000-0003-1597-8418 WOS:000469271100006 PubMed ID: 30396878 Objective: We aimed to report the characteristics at admission, diagnosis, treatment, and follow-up of cases of pediatric hyperprolactinemia in a large multicenter study. Methods: We reviewed the records of 233 hyperprolactinemic patients, under 18 years of age, who were followed by different centers. The patients were divided as having microadenomas, macroadenomas, drug-induced hyperprolactinemia and idiopathic hyperprolactinemia. Complaints of the patients, their mode of treatment (medication and/or surgery) and outcomes were evaluated in detail. Results: The mean age of the patients with hyperprolactinemia was 14.5 years, and 88.4% were females. In terms of etiology, microadenomas were observed in 32.6 %, macroadenomas in 27 %, idiopathic hyperprolactinemia in 22.7% and drug-induced hyperprolactinemia in 6.4 %. Other causes of hyperprolactinemia were defined in 11.3%. Common complaints in females (n = 206) were sorted into menstrual irregularities, headaches, galactorrhea, primary or secondary amenorrhea and weight gain, whereas headache, gynecomastia, short stature and blurred vision were common in males (n = 27). Median prolactin levels were 93.15 ng/mL, 241.8 ng/ml, 74.5 ng/mL, 93.2 ng/mL, and 69 ng/mL for microadenomas, macroadenomas, idiopathic hyperprolactinemia, drug-induced hyperprolactinemia, and other causes of hyperprolactinemia, respectively. Of 172 patients with hyperprolactinemia, 77.3 % were treated with cabergoline and 13.4 % with bromocriptine. 20.1 % of the patients with pituitary adenomas underwent pituitary surgery. Conclusion: We present the largest cohort of children and adolescents with hyperprolactinemia in the literature to date. Hyperprolactinemia is more common in females and cabergoline is highly effective and practical to use in adolescents, due to its biweekly dosing. Indications for surgery in pediatric cases need to be revised. Turkish Pediatric Endocrinology and Diabetes Society [2015-1136]; National Pediatric Endocrinology Society This work was supported by a grant from the Turkish Pediatric Endocrinology and Diabetes Society (2015-1136). The authors would like to thank the National Pediatric Endocrinology Society for financial and technical support for the paper.
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- 2019
19. The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study
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Erkan Sari, Tulay Guran, Aysşehan Akinci, Cengiz Kara, Selim Kurtoglu, Samim Özen, Gülay Karagüzel, Zehra Yavas Abali, Erdal Eren, Zeynep Atay, Filiz Tutunculer, Meltem Tayfun, Esra Döğer, Abdullah Bereket, Aysun Bideci, Semra Çetinkaya, Zehra Aycan, Gulcan Seymen Karabulut, Halil Saglam, Zeynep Şıklar, Serap Turan, Ediz Yeşilkaya, Leyla Akin, Şenay Savaş Erdeve, Atay, Zeynep, Yesilkaya, Ediz, Erdeve, Senay Savas, Turan, Serap, Akin, Leyla, Eren, Erdal, Doger, Esra, Aycan, Zehra, Abali, Zehra Yavas, Akinci, Aysehan, Siklar, Zeynep, Ozen, Samim, Kara, Cengiz, Tayfun, Meltem, Sari, Erkan, Tutunculer, Filiz, Karabulut, Gulcan Seymen, Karaguzel, Gulay, Cetinkaya, Semra, Saglam, Halil, Bideci, Aysun, Kurtoglu, Selim, Guran, Tulay, Bereket, Abdullah, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı., Sağlam, Halil, AAM-1734-2020, C-7392-2019, AAH-1155-2021, Ege Üniversitesi, and OMÜ
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Hepatoblastoma ,Male ,Pediatrics ,Turkey ,Endocrinology, Diabetes and Metabolism ,Clinical Biochemistry ,Granulosa cell tumor ,Puberty, Precocious ,ADRENOCORTICAL TUMORS ,Biochemistry ,Fibrous dysplasia ,Turkey (republic) ,0302 clinical medicine ,Endocrinology ,Precocious puberty ,Non congenital adrenal hyperplasia gonadotropin independent precocious puberty ,Germ cell tumor ,Prevalence ,Medicine ,Testosterone ,030212 general & internal medicine ,Choriocarcinoma ,Disease activity ,Polyostotic fibrous dysplasia ,Child ,Endocrinology & metabolism ,Priority journal ,MCCUNE-ALBRIGHT-SYNDROME ,education.field_of_study ,Steroid cell tumor ,Cafe-au-Lait Spots ,Ovary cyst ,Multicenter study ,Chorionic gonadotropin ,Ovary teratoma ,ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,Ovarian Cysts ,Cafe au lait spot ,Child, Preschool ,Cohort ,Female ,InformationSystems_MISCELLANEOUS ,Cohort analysis ,Symptom Assessment ,Human ,medicine.medical_specialty ,Population ,030209 endocrinology & metabolism ,Gonadorelin Derivative ,Synthetic Hormones ,Gnrh Agonist ,Dysgerminoma ,Major clinical study ,Fibrous Dysplasia, Polyostotic ,Gonadotropin-Independent Precocious Puberty ,Article ,03 medical and health sciences ,Disease association ,Internal medicine ,Liver choriocarcinoma ,Humans ,Congenital adrenal hyperplasia ,Testicular enlargement ,education ,Adrenal cortex tumor ,Demography ,Molecular pathology ,business.industry ,MUTATIONS ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,Biochemistry (medical) ,Fibrous Dysplasia of Bone ,medicine.disease ,ComputingMethodologies_PATTERNRECOGNITION ,Clinical feature ,Preschool child ,JUVENILE HYPOTHYROIDISM ,Albright syndrome ,Etiology ,Blood level ,Functional Ovarian Cyst ,Neoplasm ,EXPERIENCE ,School child ,business ,Controlled study ,Complication ,Functional ovarian cyst - Abstract
WOS: 000378819700011, PubMed ID: 26964727, Aim: The causes of gonadotropin-independent precocious puberty are diverse, and often have overlapping clinical and biochemical features. With the exception of congenital adrenal hyperplasia (CAH), disorders that cause gonadotropin-independent precocious puberty (GIPP) are uncommon. The literature is devoid of any large-scale studies on the etiologic distribution of GIPP. The aim of this study was to determine the frequency of each etiology in a cohort of patients with GIPP (excluding those with CAH), and to evaluate the clinical and laboratory features of these patients. Materials and Methods: This multicenter, nationwide web-based study collected data on patients who presented with non-CAH GIPP in Turkey. Results: Data were collected for 129 patients (102 girls and 27 boys) from 29 centers. Based on the data collected, the estimated prevalence of non-CAH GIPP in the studied population was 14 in 1 000 000 children. Functional ovarian cyst was the most common etiology, accounting for 37% of all cases, followed by McCune-Albright syndrome (MAS) (26%). Among the patients with MAS, 11.7% had fibrous dysplasia, 32.3% had caf-au-lait spots, and 52.9% had both. Human chorionic gonadotrophin-secreting tumors included choriocarcinoma of the liver, hepatoblastoma, and germ cell tumors of the sellar-suprasellar region and mediastinum. Patients with adrenocortical tumors presented at an earlier age than those with other etiologies. Ovarian tumors included mature cystic teratoma, dysgerminoma, juvenile granulosa tumor, and steroid cell tumor. Despite overlapping features, it was possible to identify some unique clinical and laboratory features associated with each etiology. Conclusion: This largest cohort of patients with non-CAH GIPP to date yielded an estimation of the frequency of non-CAH GIPP in the general pediatric population and showed that girls were affected at a rate 4-fold greater than that of boys owing to functional ovarian cysts and MAS, which were the two most common etiologies. The data collected also provided some unique characteristics associated with each etiology., Turkish Pediatric Endocrinology and Diabetes Society [052014], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (No: 052014).
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- 2016
20. Rare causes of primary adrenal insufficiency: Genetic and clinical characterization of a large nationwide cohort
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Guran T., Buonocore F., Saka N., Ozbek M.N., Aycan Z., Bereket A., Bas F., Darcan S., Bideci A., Guven A., Demir K., Akinci A., Buyukinan M., Aydin B.K., Turan S., Agladioglu S.Y., Atay Z., Abali Z.Y., Tarim O., Catli G., Yuksel B., Akcay T., Yildiz M., Ozen S., Doger E., Demirbilek H., Ucar A., Isik E., Ozhan B., Bolu S., Ozgen I.T., Suntharalingham J.P., Achermann J.C., ÖZGEN, İLKER TOLGA, Ege Üniversitesi, Achermann, John -- 0000-0001-8787-6272, GUVEN, AYLA -- 0000-0002-2026-1326, Turan, Serap -- 0000-0002-5172-5402, Ucar, Ahmet -- 0000-0001-8144-8437, yuksel, bilgin -- 0000-0003-4378-3255, and [Guran, Tulay -- Aycan, Zehra -- Bereket, Abdullah -- Turan, Serap] Marmara Univ, Dept Pediat Endocrinol & Diabet, Fevzi Cakmak Mh Mimar Sinan Cd 41, TR-34899 Istanbul, Turkey -- [Guran, Tulay] Univ Birmingham, Inst Metab & Syst Res, Birmingham B15 2TT, W Midlands, England -- [Buonocore, Federica -- Suntharalingham, Jenifer P. -- Achermann, John C.] UCL, Inst Child Hlth, Dept Genet & Genom Med, London WC1N 1EH, England -- [Saka, Nurcin -- Bas, Firdevs -- Aydin, Banu Kucukemre -- Abali, Zehra Yavas] Istanbul Univ, Istanbul Fac Med, Dept Pediat Endocrinol & Diabet, TR-34452 Istanbul, Turkey -- [Ozbek, Mehmet Nuri -- Demirbilek, Huseyin] Diyarbakir Childrens Hosp, Clin Pediat Endocrinol, TR-21100 Diyarbakir, Turkey -- [Aycan, Zehra -- Agladioglu, Sebahat Yilmaz] Childrens Hlth & Dis Training & Res Hosp, Dr Sami Ulus Obstet & Gynecol, Clin Pediat Endocrinol, TR-06100 Ankara, Turkey -- [Darcan, Sukran -- Ozen, Samim] Ege Univ, Dept Pediat Endocrinol & Diabet, TR-35040 Izmir, Turkey -- [Bideci, Aysun -- Doger, Esra] Gazi Univ, Dept Pediat Endocrinol & Diabet, TR-06550 Ankara, Turkey -- [Guven, Ayla -- Yildiz, Metin] Goztepe Educ & Res Hosp, Pediat Endocrinol Clin, TR-34810 Istanbul, Turkey -- [Guven, Ayla] Amasya Univ, Fac Med, Dept Pediat, TR-05189 Amasya, Turkey -- [Demir, Korcan] Dr Behcet Uz Childrens Hosp, Pediat Endocrinol Clin, Izmir, Turkey -- [Akinci, Aysehan] Inonu Univ, Dept Pediat Endocrinol & Diabetes, Malatya, Turkey -- [Buyukinan, Muammer] Konya Training & Res Hosp, Clin Pediat Endocrinol, TR-42100 Konya, Turkey -- [Tarim, Omer] Uludag Univ, Dept Pediat Endocrinol & Diabet, TR-16059 Bursa, Turkey -- [Catli, Gonul] Eylul Univ, Dept Pediat Endocrinol & Diabet, TR-35210 Izmir, Turkey -- [Yuksel, Bilgin] Cukurova Univ, Dept Pediat Endocrinol & Diabet, TR-01330 Adana, Turkey -- [Akcay, Teoman] Kanuni Sultan Suleyman Educ & Res Hosp, Clin Pediat Endocrinol, TR-34303 Istanbul, Turkey -- [Ucar, Ahmet] Sanliurfa Childrens Hosp, Pediat Endocrinol Clin, TR-63300 Sanliurfa, Turkey -- [Isik, Emregul] Gaziantep Childrens Hosp, Pediat Endocrinol Clin, TR-27010 Gaziantep, Turkey -- [Ozhan, Bayram] Pamukkale Univ, Fac Med, Dept Pediat Endocrinol & Diabet, TR-20160 Denizli, Turkey -- [Bolu, Semih] Duzce Univ, Fac Med, Dept Pediat Endocrinol & Diabet, TR-81620 Duzce, Turkey -- [Ozgen, Ilker Tolga] Bezm I Alem Vakif Univ, Dept Pediat Endocrinol & Diabet, TR-34093 Istanbul, Turkey
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Male ,ABCD1 gene ,frameshift mutation ,Turkey ,clinical evaluation ,nonsense mutation ,Gene Expression ,CYP11A1 gene ,genetic analysis ,preschool child ,Cohort Studies ,newborn ,genetic variability ,MC2R gene ,genetics ,Age of Onset ,Child ,next generation sequencing ,food and beverages ,cohort analysis ,MRAP gene ,NR0B1 gene ,AAAS gene ,ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,female ,priority journal ,Child, Preschool ,NR5A1 gene ,Female ,epidemiology ,InformationSystems_MISCELLANEOUS ,adrenal insufficiency ,sequence capture ,mutational analysis ,structured questionnaire ,onset age ,Adolescent ,Article ,high throughput sequencing ,molecular diagnosis ,primary adrenal insufficiency ,NNT gene ,Humans ,human ,gene ,gene deletion ,missense mutation ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,Infant, Newborn ,Genetic Variation ,Infant ,nicotinamide adenine dinucleotide (phosphate) transhydrogenase ,Original Articles ,DNA ,cholesterol monooxygenase (side chain cleaving) ,major clinical study ,clinical feature ,ComputingMethodologies_PATTERNRECOGNITION ,Mutation ,corticotropin ,genetic procedures ,Adrenal Insufficiency - Abstract
WOS: 000377212700036, PubMed ID: 26523528, Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future., Turkish Pediatric Endocrinology Research Grant [UPE-2014-2]; Wellcome TrustWellcome Trust [098513/Z/12/Z]; National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London; European CommunityEuropean Community (EC) [PIEF-GA-2012-328959], This work was supported by Turkish Pediatric Endocrinology Research Grant UPE-2014-2. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (Grant 098513/Z/12/Z), with support from the National Institute for Health Research Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London. T.G. is a European Community, Marie-Curie research fellow (Grant PIEF-GA-2012-328959).
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- 2016
21. Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
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BEREKET, ABDULLAH, DEMİRCİOĞLU, SERAP, GÜRAN, TÜLAY, Guran, Tulay, Buonocore, Federica, Saka, Nurcin, Ozbek, Mehmet Nuri, Aycan, Zehra, Bereket, Abdullah, Bas, Firdevs, Darcan, Sukran, Bideci, Aysun, Guven, Ayla, Demir, Korcan, Akinci, Aysehan, Buyukinan, Muammer, Aydin, Banu Kucukemre, Turan, Serap, Agladioglu, Sebahat Yilmaz, Atay, Zeynep, Abali, Zehra Yavas, Tarim, Omer, Catli, Gonul, Yuksel, Bilgin, Akcay, Teoman, Yildiz, Metin, Ozen, Samim, Doger, Esra, Demirbilek, Huseyin, Ucar, Ahmet, Isik, Emregul, Ozhan, Bayram, Bolu, Semih, Ozgen, Ilker Tolga, Suntharalingham, Jenifer P., and Achermann, John C.
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MISSENSE MUTATIONS ,CYP11A1 ,DAX-1 NR0B1 ,CHAIN CLEAVAGE ENZYME ,HYPOPLASIA CONGENITA ,KILLER-CELL DEFICIENCY ,ACTH RECEPTOR ,FOLLOW-UP ,FAMILIAL GLUCOCORTICOID DEFICIENCY ,STEROIDOGENIC FACTOR-I - Abstract
Context: Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management. Objective: The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology. Design: A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded. Setting: The study was conducted in 19 tertiary pediatric endocrinology clinics. Patients: Ninety-five children (48 females, aged 0-18 y, eight familial) with PAI of unknown etiology participated in the study. Results: A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c. IVS3ds + 1delG in MRAP. Several important clinical and molecular insights emerged. Conclusion: This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.
- Published
- 2016
22. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group
- Author
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Durmuş Doğan, Sultan Kaba, Bayram Özhan, Huseyin Demirbilek, Cigdem Binay, Ayşehan Akıncı, Davut Gül, Halil Saglam, Bumin Dündar, Oya Ercan, Fatih Gurbuz, Gülay Karagüzel, Esra Deniz Çakır, Erdal Eren, Olcay Evliyaoğlu, Serpil Bas, Firdevs Bas, Tolga Ünüvar, Nesibe Andiran, Mehmet Nuri Ozbek, Muammer Buyukinan, Beray Selver Eklioğlu, Fatma Demirel, Cengiz Kara, Feyza Darendeliler, Ayhan Abaci, Kezban Bulan, Cengizhan Açıkel, Şükrü Hatun, Erdal Adal, Ömer Tarım, Bilgin Yüksel, Peyami Cinaz, Nurullah Çelik, Nesibe Akyürek, Mehmet Keskin, Saygin Abali, Korcan Demir, Damla Gökşen, Deniz Özalp Kızılay, Ahmet Anık, Ayşenur Ökten, Ozgur Pirgon, Şükran Darcan, Betül Ersoy, Celal Sağlam, M. Mümtaz Mazıcıoğlu, Filiz Mine Çizmecioğlu, Abdullah Bereket, Yaşar Şen, Hakan Doneray, Semih Bolu, Murat Doğan, Gönül Çatlı, Veysel Nijat Baş, Erkan Sari, Behzat Özkan, Rüveyde Bundak, Hatice Dilek Can, Hasan Önal, Ali Ataş, Adem Polat, Derya Tepe, Enver Simsek, Tolga Özgen, Ali Kemal Topaloglu, Serap Turan, Banu Kucukemre Aydin, Ediz Yeşilkaya, Leyla Akin, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Çukurova Üniversitesi, OMÜ, Darendeliler, Feyza, Yesilkaya, Ediz, Bereket, Abdullah, Bas, Firdevs, Bundak, Ruveyde, Sari, Erkan, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Mazicioglu, Mumtaz M., Adal, Erdal, Akinci, Aysehan, 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, Demirbilek, Huseyin, 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, Saglam, Celal, Gul, Davut, Polat, Adem, Acikel, Cengizhan, and Cinaz, Peyami
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Pediatrics ,Percentile ,abnormal body build ,Turkey ,Cross-sectional study ,Turkish ,Endocrinology, Diabetes and Metabolism ,Ethnic group ,CHILDREN ,preschool child ,Body Mass Index ,Endocrinology ,Turner syndrome ,Medicine ,genetics ,Young adult ,Child ,growth charts ,pathophysiology ,CELIAC-DISEASE ,clinical trial ,Turkish children ,ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS ,female ,Child, Preschool ,language ,Original Article ,InformationSystems_MISCELLANEOUS ,STANDARDS ,Adult ,medicine.medical_specialty ,Adolescent ,Karyotype ,Article ,body weight ,Young Adult ,cross-sectional study ,Humans ,aneuploidy ,human ,Growth charts ,body mass index charts ,business.industry ,ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS ,school child ,medicine.disease ,major clinical study ,body mass ,Body Height ,language.human_language ,multicenter study ,Cross-Sectional Studies ,ComputingMethodologies_PATTERNRECOGNITION ,FINAL HEIGHT ,Reference values ,physiology ,Pediatrics, Perinatology and Child Health ,HORMONE TREATMENT ,WEIGHT ,business ,Body mass index ,Body mass index charts ,growth curve - Abstract
WOS: 000360842500004, PubMed: 26831551, Objective: 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., Turkish Pediatric Endocrinology and Diabetes Society [012013], This work was supported by the Turkish Pediatric Endocrinology and Diabetes Society (Grand number: 012013).
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- 2015
23. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study
- Author
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Ahmet Anık, Hakan Doneray, Ayşehan Akıncı, Kursat Fidanci, Olcay Evliyaoğlu, Davut Gül, Ali Ataş, Serpil Bas, Betül Ersoy, Derya Tepe, Erdal Eren, Cigdem Binay, Mehmet Nuri Ozbek, Carolyn Bondy, Hasan Önal, Tolga Ünüvar, Beray Selver Eklioğlu, Şükran Darcan, Erdal Adal, Feyza Darendeliler, Gönül Çatlı, Semih Bolu, Bayram Özhan, Nesibe Andiran, Ayşenur Ökten, Fatma Demirel, Yaşar Şen, Huseyin Demirbilek, Şükrü Hatun, Enver Simsek, Mehmet Keskin, Behzat Özkan, Sultan Kaba, Adem Polat, Kezban Bulan, Muammer Buyukinan, Halil Saglam, Hatice Dilek Can, Bumin Dündar, Oya Ercan, Damla Gökşen, Nurullah Çelik, Deniz Özalp Kızılay, Abdullah Bereket, Ömer Tarım, Cengiz Kara, Erkan Sari, Ayhan Abaci, Gülay Karagüzel, Peyami Cinaz, Filiz Mine Çizmecioğlu, Cengizhan Açıkel, Bilgin Yüksel, Ozgur Pirgon, Fatih Gurbuz, Nesibe Akyürek, Durmuş Doğan, Saygin Abali, Banu Kucukemre Aydin, Korcan Demir, Ediz Yeşilkaya, Leyla Akin, Serap Turan, Tolga Özgen, Esra Deniz Çakır, Murat Doğan, Veysel Nijat Baş, Ali Kemal Topaloglu, Firdevs Bas, Sukran Poyrazoglu, Hamdi Cihan Emeksiz, Zerrin Orbak, Samim Özen, Mehmet Emre Atabek, Çukurova Üniversitesi, OMÜ, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Ege Üniversitesi, Selçuk Üniversitesi, Yesilkaya, Ediz, Bereket, Abdullah, Darendeliler, Feyza, Bas, Firdevs, Poyrazoglu, Sukran, Aydin, Banu Kucukemre, Darcan, Sukran, Dundar, Bumin, Buyukinan, Muammer, Kara, Cengiz, Sari, Erkan, Adal, Erdal, Akinci, Aysehan, 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, and Bondy, Carolyn
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Pediatrics ,Turkey ,Turkish ,Endocrinology, Diabetes and Metabolism ,clinical evaluation ,retrospective study ,Turner Syndrome ,genetic analysis ,Comorbidity ,Diagnostic features ,preschool child ,Endocrinology ,cardiovascular disease ,newborn ,insulin resistance ,Turner syndrome ,Prevalence ,Medicine ,genetics ,associated problems ,Child ,Children ,X chromosome ,comparative study ,diagnostic features ,ABNORMALITIES ,adult ,throat disease ,CELIAC-DISEASE ,Karyotype ,clinical trial ,karyotyping ,Prognosis ,delayed puberty ,Survival Rate ,female ,Child, Preschool ,Nationwide study ,Associated problems ,GIRLS ,language ,urinary tract malformation ,Original Article ,Female ,medicine.medical_specialty ,Monosomy ,Adolescent ,Endokrinoloji ve Metabolizma ,HEART-DISEASE ,Article ,learning disorder ,children ,follow up ,Humans ,human ,MELANOCYTIC NEVI ,Retrospective Studies ,RENAL MALFORMATIONS ,AORTIC-VALVE ,skin disease ,business.industry ,disease association ,dyslipidemia ,Case-control study ,Infant, Newborn ,Infant ,Retrospective cohort study ,gastrointestinal malformation ,case control study ,medicine.disease ,osteoporosis ,language.human_language ,clinical feature ,karyotype ,impaired glucose tolerance ,multicenter study ,CARDIOVASCULAR MALFORMATIONS ,Pediatri ,Karyotyping ,Case-Control Studies ,Pediatrics, Perinatology and Child Health ,RISK-FACTORS ,business ,Follow-Up Studies - Abstract
WOS: 000351307200005, PubMed ID: 25800473, Objective: 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.
- Published
- 2015
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