Turner Syndrome and Associated Problems in Turkish Children A Multicenter Study
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Journal of Clinical Research in Pediatric Endocrinology
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Turner syndrome (TS) is a genetic disorder characterized by
total or partial absence of one sex chromosome (1). It is one of
the most common chromosomal disorder with an incidence of
1:2500 female live births (2,3). The most prevalent karyotype is
45,X, followed by mosaic patterns.
TS is associated with several morbidities that increase
with age. Although TS causes several multisystem disorders,
the most common presentation is usually due to short stature
and primary gonadal deficiency. Patients may present with
congenital malformations such as horseshoe kidney and
coarctation of the aorta. They may also develop diabetes,
hypothyroidism, hypertension, hearing loss, osteoporosis and
bone fractures (4,5). Timely diagnosis and proper management
of associated problems may reduce substantial morbidity and
mortality and improve the quality of life in TS patients. Studies
based on a large pediatric population which provide data on
frequency of associated problems and their distribution among
the different karyotypes are scarce (6,7,8).
In the present study, we aimed to define the frequency of
associated problems in TS patients during childhood and the
distribution of these clinical features according to karyotype
and age by evaluating 842 patients with TS from 35 centers
in Turkey
Açıklama
J Clin Res Pediatr Endocrinol 2015;7(1):27-36
Anahtar Kelimeler
Nationwide study, Turner syndrome, Children, Diagnostic features, Associated problems
Kaynak
Journal of Clinical Research in Pediatric Endocrinology
WoS Q Değeri
Scopus Q Değeri
Cilt
7
Sayı
1
Künye
EDİZ, Y., BEREKET, A., DARENDELİLER, F. F., BAŞ, F., POYRAZOĞLU, Ş., BANU, K., … AKINCI, A. (2015). Turner Syndrome and Associated Problems in Turkish Children A Multicenter Study. Journal of Clinical Research in Pediatric Endocrinology, 7(1), 27–36.
