Korean J Pediatr.  2010 Feb;53(2):158-162. 10.3345/kjp.2010.53.2.158.

Clinical disease characteristics according to karyotype in Turner syndrome

Affiliations
  • 1Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. cjkim@chonnam.ac.kr
  • 2Department of Pediatric, Chonbuk National University Medical School, Jeonju, Korea.
  • 3Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea.
  • 4Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea.

Abstract

PURPOSE
Turner syndrome (TS) is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype.
METHODS
We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems.
RESULTS
The distribution of karyotype was 45,X (47.8%), mosaic pattern (34.4%) and structural aberration group (17.8%). Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0%, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%), cardiovascular anomalies (18.6%), thyroid disorders (9.3%) and auditory problems (11.6%). Mosaic group had renal anomalies (3.2%), thyroid disorders (12.9%), no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%), thyroid disorders (12.5%) and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025).
CONCLUSION
Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

Keyword

Turner syndrome; Karyotype; Phenotype

MeSH Terms

Humans
Incidence
Karyotype
Medical Records
Phenotype
Thyroid Gland
Turner Syndrome
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