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3 results on '"Topaloglu, Ali Kemal"'

1. Distribution of Gene Mutations Associated with Familial Normosmic Idiopathic Hypogonadotropic Hypogonadism

Author

Mehmet Fatih Kılıçlı, Fatih Gurbuz, Birgül Kirel, Mehmet Nuri Ozbek, Zeynep Şıklar, M. Burcu Kekil, Murat Doğan, Merih Berberoğlu, L. Damla Kotan, Sukran Poyrazoglu, Samim Özen, Yaşar Cesur, Nurçin Saka, Ali Kemal Topaloglu, Bilgin Yüksel, Fatih Temiz, Eda Mengen, Sebila Dökmetaş, Neslihan Önenli Mungan, Ayla Güven, Huseyin Demirbilek, CESUR, Yaşar, Çukurova Üniversitesi, [Gurbuz, Fatih -- Mengen, Eda -- Temiz, Fatih -- Mungan, Neslihan Onenli -- Yuksel, Bilgin -- Topaloglu, Ali Kemal] Cukurova Univ, Fac Med, Dept Pediat Endocrinol, Adana, Turkey -- [Kotan, L. Damla -- Kekil, M. Burcu -- Topaloglu, Ali Kemal] Cukurova Univ, Inst Sci, Dept Biotechnol, Adana, Turkey -- [Siklar, Zeynep -- Berberoglu, Merih] Ankara Univ, Fac Med, Dept Pediat Endocrinol, TR-06100 Ankara, Turkey -- [Dokmetas, Sebila -- Kilicli, Mehmet Fatih] Cumhuriyet Univ, Dept Endocrinol, Fac Med, Sivas, Turkey -- [Guven, Ayla] Goztepe Educ & Res Hosp, Dept Pediat Endocrinol, Istanbul, Turkey -- [Kirel, Birgul] Osmangazi Univ, Dept Pediat Endocrinol, Fac Med, Eskisehir, Turkey -- [Saka, Nurcin -- Poyrazoglu, Sukran] Istanbul Univ, Fac Med, Dept Pediat Endocrinol, Istanbul, Turkey -- [Cesur, Yasar -- Dogan, Murat] Yuzuncu Yil Univ, Dept Pediat Endocrinol, Fac Med, Van, Turkey -- [Ozen, Samim] Mersin Childrens Hosp, Dept Pediat Endocrinol, Mersin, Turkey -- [Ozbek, Mehmet Nuri -- Demirbilek, Huseyin] Diyarbakir Childrens Hosp, Dept Pediat Endocrinol, Diyarbakir, Turkey, Onenli Mungan, Halise Neslihan -- 0000-0001-7862-3038, GUVEN, AYLA -- 0000-0002-2026-1326, Kotan, Leman Damla -- 0000-0001-6176-8986, gurbuz, fatih -- 0000-0003-2160-9838, and yuksel, bilgin -- 0000-0003-4378-3255

Subjects
Adult, Male, genetic structures, Adolescent, Turkey, Neurokinin B, Endocrinology, Diabetes and Metabolism, Anosmia, Gene mutation, medicine.disease_cause, Gene, Receptors, G-Protein-Coupled, Cohort Studies, Young Adult, Endocrinology, Hypogonadotropic hypogonadism, Hyposmia, Tachykinins, medicine, Humans, Protein Isoforms, Prospective Studies, Prospective cohort study, gene, Genetic Association Studies, Genetics, Family Health, Mutation, Kisspeptins, Normosmic idiopathic hypogonadotropic hypogonadism, business.industry, Hypogonadism, GNRHR, Infant, Receptors, Neurokinin-3, medicine.disease, Pediatrics, Perinatology and Child Health, Original Article, medicine.symptom, business, Receptors, LHRH, Receptors, Kisspeptin-1
Abstract

WOS: 000209012700002, PubMed ID: 22766261, Objective: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is characterized by failure of initiation or maintenance of puberty due to insufficient gonadotropin release, which is not associated with anosmia/hyposmia. The objective of this study was to determine the distribution of causative mutations in a hereditary form of nIHH. Methods: In this prospective collaborative study, 22 families with more than one affected individual (i.e. multiplex families) with nIHH were recruited and screened for genes known or suspected to be strong candidates for nIHH. Results: Mutations were identified in five genes (GNRHR, TACR3, TAC3, KISS1R, and KISS1) in 77% of families with autosomal recessively inherited nIHH. GNRHR and TACR3 mutations were the most common two causative mutations occurring with about equal frequency. Conclusions: Mutations in these five genes account for about three quarters of the causative mutations in nIHH families with more than one affected individual. This frequency is significantly greater than the previously reported rates in all inclusive (familial plus sporadic) cohorts. GNRHR and TACR3 should be the first two genes to be screened for diagnostic purposes. Identification of causative mutations in the remaining families will shed light on the regulation of puberty.

Published
2012

2. Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Author

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

Subjects
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).

Published
2015

3. Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study

Author

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

Subjects
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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