J Korean Soc Pediatr Endocrinol.  2005 Dec;10(2):176-180.

Incidence of Renal Anomalies According to the Karyotype in Children with Turner Syndrome

• Chung YH
• Choi EK
• Park YM
• Park YH
• Chung WY

Abstract

PURPOSE
The prevalence of renal anomalies in Turner syndrome (TS) has been reported varies from 33% to 60%. In order to clarify the true incidence of renal malformations in Korean TS, and the incidence of renal anomalies according to the karyotype, we have a plan to study this subject.
METHODS
We evaluated 51 patients with TS diagnosed by karyotype in Inje University Busan Paik Hospital and Youngnam University from January 1995 to March 2005. The study population was divided into two groups according to the cytogenetic results as classic group (45,X karyotype) and variant group (mosaicism and structural aberration).
RESULTS
Of the 51 patients, the karyotype showed 45,X in 26 (51.0%) patients, mosaicism in 17 (33.3 %) patients and structural aberration in 8 (15.7%) patients. Of the 26 patients with 45,X karotype, 12 (46.2%) had renal anomalies, while these were found in 7 (28.0%) of the 25 patients with mosaicism/ structural aberration. The renal anomalies included 9 cases of horseshoe kidney, 7 cases of abnormal renal collecting system, 2 cases of single kidney and 1 case of malrotation.
CONCLUSION
The incidence of renal anomalies in Korean TS was 37.3%. The incidence of renal anomalies of the patients with 45,X karotype was higher than that of the patients with mosaicism/structural aberration, but the difference was not statistically significant. We recommend that renal ultrasonography or IVP for investigation of renal anomalies should be done as a screening procedure for the better quality of life in patients with TS.

Keyword

Turner syndrome; Incidence; Renal anomalies; Karyotype; Korean

MeSH Terms

Busan
Child*
Cytogenetics
Humans
Incidence*
Karyotype*
Kidney
Mass Screening
Mosaicism
Prevalence
Quality of Life
Turner Syndrome*
Ultrasonography