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Am J Med Genet A. 2016 Apr;170A(4):942-8. doi: 10.1002/ajmg.a.37498. Epub 2016 Jan 20.

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

Author information

1
Department of Pediatric Endocrinology, Gulhane Military Medicine Academy, Turkey.
2
Department of Pediatric Endocrinology, Marmara University Faculty of Medicine, Turkey.
3
Department of Pediatric Endocrinology, Istanbul University Istanbul Faculty of Medicine, Turkey.
4
Department of Pediatric Endocrinology, Ege University Faculty of Medicine, Turkey.
5
Department of Pediatric Endocrinology, İzmir Katip Çelebi University Faculty of Medicine, Turkey.
6
Department of Pediatric Endocrinology, Konya Training and Research Hospital, Turkey.
7
Department of Pediatric Endocrinology, 19 Mayıs University Faculty of Medicine, Turkey.
8
Department of Pediatric Endocrinology, Kanuni Sultan Süleyman University Faculty of Medicine, Turkey.
9
Department of Pediatric Endocrinology, İnönü University Faculty of Medicine, Turkey.
10
Department of Pediatric Endocrinology, Necmettin Erbakan University Faculty of Medicine, Turkey.
11
Department of Pediatric Endocrinology, Yıldırım Beyazıt University, Turkey.
12
Department of Pediatric Endocrinology, Gazi University Faculty of Medicine, Turkey.
13
Department of Pediatric Endocrinology, Dr. Behçet Uz Children Hospital, Turkey.
14
Department of Pediatric Endocrinology, Pamukkale University Faculty of Medicine, Turkey.
15
Department of Pediatric Endocrinology, Atatürk University Faculty of Medicine, Turkey.
16
Department of Pediatric Endocrinology, Celal Bayar University Faculty of Medicine, Turkey.
17
Department of Pediatric Endocrinology, Yüzüncü Yıl University Faculty of Medicine, Turkey.
18
Department of Pediatric Endocrinology, Harran University Faculty of Medicine, Turkey.
19
Department of Pediatric Endocrinology, Uludağ University Faculty of Medicine, Turkey.
20
Department of Pediatric Endocrinology, Çukurova University Faculty of Medicine, Turkey.
21
Department of Pediatric Endocrinology, Istanbul University Cerrahpaşa Faculty of Medicine, Turkey.
22
Department of Pediatric Endocrinology, Kocaeli University Faculty of Medicine, Turkey.
23
Department of Pediatric Endocrinology, Osmangazi University Faculty of Medicine, Turkey.
24
Department of Pediatric Endocrinology, Karadeniz Technical University Faculty of Medicine, Turkey.
25
Department of Pediatric Endocrinology, 9 Eylül University Faculty of Medicine, Turkey.
26
Department of Pediatric Endocrinology, Diyarbakır Children's State Hospital, Turkey.
27
Department of Pediatric Endocrinology, Gaziantep University Faculty of Medicine, Turkey.
28
Department of Pediatric Endocrinology, Düzce University Faculty of Medicine, Turkey.
29
Department of Pediatric Endocrinology, Selçuk University Faculty of Medicine, Turkey.
30
Department of Pediatric Endocrinology, Keçiören Training and Research Hospital, Turkey.
31
Department of Pediatric Endocrinology, Süleyman Demirel University Faculty of Medicine, Turkey.
32
Department of Pediatric Endocrinology, Eskisehir Public Hospital, Turkey.

Abstract

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.

KEYWORDS:

anthropometry; karyotype; turner syndrome

PMID:
26788866
DOI:
10.1002/ajmg.a.37498
[Indexed for MEDLINE]

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