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Ann Pediatr Endocrinol Metab > Volume 10(2); 2005 > Article
Incidence of Renal Anomalies According to the Karyotype in Children with Turner Syndrome.
Young Hee Chung, Eun Kyung Choi, Young Mi Park, Yong Hoon Park, Woo Yeong Chung
1Department of Pediatrics, College of Medicine, Inje University, Busan Paik Hospital, Busan, Korea. chungwy@chollian.net
2Department of Radiology, College of Medicine, Inje University, Busan Paik Hospital, Busan, Korea.
3Department of Pediatrics, College of Medicine, Youngnam University, Taegu, Korea.
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).
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.
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.
Keywords: Turner syndrome;Incidence;Renal anomalies;Karyotype;Korean


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