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Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome
Author(s) -
Sari Erkan,
Bereket Abdullah,
Yeşilkaya Ediz,
Baş Firdevs,
Bundak Rüveyde,
Aydın Banu Küçükemre,
Darcan Şükran,
Dündar Bumin,
Büyükinan Muammer,
Kara Cengiz,
Adal Erdal,
Akıncı Ayşehan,
Atabek Mehmet Emre,
Demirel Fatma,
Çelik Nurullah,
Özkan Behzat,
Özhan Bayram,
Orbak Zerrin,
Ersoy Betül,
Doğan Murat,
Ataş Ali,
Turan Serap,
Gökşen Damla,
Tarım Ömer,
Yüksel Bilgin,
Ercan Oya,
Hatun Şükrü,
Şimşek Enver,
Ökten Ayşenur,
Abacı Ayhan,
Döneray Hakan,
Özbek Mehmet Nuri,
Keskin Mehmet,
Önal Hasan,
Akyürek Nesibe,
Bulan Kezban,
Tepe Derya,
Emeksiz Hamdi Cihan,
Demir Korcan,
Kızılay Deniz,
Topaloğlu Ali Kemal,
Eren Erdal,
Özen Samim,
Demirbilek Hüseyin,
Abalı Saygın,
Akın Leyla,
Eklioğlu Beray Selver,
Kaba Sultan,
Anık Ahmet,
Baş Serpil,
Unuvar Tolga,
Sağlam Halil,
Bolu Semih,
Özgen Tolga,
Doğan Durmuş,
Çakır Esra Deniz,
Şen Yaşar,
Andıran Nesibe,
Çizmecioğlu Filiz,
Evliyaoğlu Olcay,
Karagüzel Gülay,
Pirgon Özgür,
Çatlı Gönül,
Can Hatice Dilek,
Gürbüz Fatih,
Binay Çiğdem,
Baş Veysel Nijat,
Fidancı Kürşat,
Gül Davut,
Polat Adem,
Acıkel Cengizhan,
Cinaz Peyami,
Darendeliler Feyza
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37498
Subject(s) - pediatrics , anthropometry , medicine , gestational age , turner syndrome , birth weight , small for gestational age , turkish population , population , body mass index , obstetrics , pregnancy , endocrinology , biology , biochemistry , genetics , environmental health , gene , genotype
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 < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were −3.1 ± 1.7, −1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups ( P = 0.007). Age at presentation was negatively correlated and mid‐parental height was positively correlated with height at presentation. Mid‐parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups. © 2016 Wiley Periodicals, Inc.