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1. Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome

Author

Nesibe Akyürek, Esra Deniz Çakır, Deniz Özalp Kızılay, Ayşenur Ökten, Fatih Gurbuz, Halil Saglam, Ayşehan Akıncı, Erkan Sari, Hatice Dilek Can, Bumin Dündar, Oya Ercan, Hakan Doneray, Bayram Özhan, Murat Doğan, Saygin Abali, Filiz Mine Çizmecioğlu, Firdevs Bas, Cigdem Binay, Gönül Çatlı, Veysel Nijat Baş, Huseyin Demirbilek, Hamdi Cihan Emeksiz, Samim Özen, Davut Gül, Feyza Darendeliler, Zerrin Orbak, Olcay Evliyaoğlu, Derya Tepe, Şükran Darcan, Mehmet Emre Atabek, Mehmet Keskin, Tsolga Unuvar, Cengizhan Açıkel, Ömer Tarım, Kezban Bulan, Ahmet Anık, Kursat Fidanci, Hasan Önal, Betül Ersoy, Mehmet Nuri Ozbek, Fatma Demirel, Nurullah Çelik, Ali Ataş, Erdal Adal, Semih Bolu, Enver Simsek, Beray Selver Eklioğlu, Korcan Demir, Yaşar Şen, Nesibe Andiran, Ayhan Abaci, Erdal Eren, Abdullah Bereket, Muammer Buyukinan, Peyami Cinaz, Bilgin Yüksel, Behzat Özkan, Serap Turan, Tolga Özgen, Serpil Bas, Şükrü Hatun, Ali Kemal Topaloglu, Ozgur Pirgon, Banu Kucukemre Aydin, Sultan Kaba, Gülay Karagüzel, Ediz Yeşilkaya, Leyla Akin, Rüveyde Bundak, Durmuş Doğan, Cengiz Kara, Adem Polat, Damla Gökşen, Ondokuz Mayıs Üniversitesi, ÖZBEK, MELİKE, ÖZGEN, İLKER TOLGA, POLAT, AYTEN, Çukurova Üniversitesi, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinolojisi Anabilim Dalı., Eren, Erdal, Sağlam, Halil, Doğan, Durmuş, Çakır, Esra Deniz, Can, Hatice Dilek, Tarım, Ömer, GQO-9634-2022, AAH-1155-2021, AAM-1734-2020, C-7392-2019, and AID-3610-2022

Subjects
Turner Syndrome, Abnormal Karyotype, Head circumference, preschool child, 0302 clinical medicine, birth, newborn, Turner syndrome, birth length, Medicine, genetics, Child, Children, Genetics (clinical), parameters concerning the fetus, newborn and pregnancy, small for date infant, anthropometry, Anthropometry, Obstetrics, adult, Genetics & heredity, correlational study, clinical trial, karyotyping, Turkish citizen, female, Phenotype, Sex Chromosome Aberrations, Gonadal Agenesis, priority journal, Child, Preschool, Cohort, turner syndrome, body height, young adult, Female, Presentation (obstetrics), medicine.drug, Adult, onset age, medicine.medical_specialty, adulthood, Adolescent, Birth weight, isochromosome, 030209 endocrinology & metabolism, Article, Young Adult, 03 medical and health sciences, body weight, isochromosome Xq, 030225 pediatrics, Internal medicine, Genetics, Humans, controlled study, human, Growth-hormone treatment, Height, business.industry, human cell, prematurity, Oxandrolone, Infant, Newborn, birth weight, Infant, Weight, medicine.disease, major clinical study, body mass, karyotype, Endocrinology, Small for gestational age, chromosome aberration, business, Body mass index
Abstract

ABALI, SAYGIN/0000-0001-6552-2801; Gurbuz, Fatih/0000-0003-2160-9838; Hatun, Sukru/0000-0003-1633-9570; Abaci, Ayhan/0000-0002-1812-0321; Turan, Serap/0000-0002-5172-5402; Buyukinan, Muammer/0000-0002-2937-823X; yuksel, bilgin/0000-0003-4378-3255; Ozgen, Ilker Tolga/0000-0001-6592-9652; binay, cigdem/0000-0002-7749-8818; ozkan, Behzat/0000-0002-9153-8409; Demir, Korcan/0000-0002-8334-2422; Eren, Erdal/0000-0002-1684-1053 WOS: 000373099300016 PubMed: 26788866 To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P

Published
2016

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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