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Turner Syndrome and Associated Problems in Turkish Children: A Multicenter Study
- Source :
- Journal of Clinical Research in Pediatric Endocrinology
- Publication Year :
- 2015
- Publisher :
- Galenos Yayincilik, 2015.
-
Abstract
- WOS: 000351307200005<br />PubMed ID: 25800473<br />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.
- 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
Subjects
Details
- Language :
- English
- ISSN :
- 00035130
- Database :
- OpenAIRE
- Journal :
- Journal of Clinical Research in Pediatric Endocrinology
- Accession number :
- edsair.doi.dedup.....a13949772b0ba3c11c6a6543db8ed61b