Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients


AKALIN A., ERTUĞRUL İ., ŞİMŞEK KİPER P. Ö. , ÜTİNE G. E. , BODUROĞLU O. K.

MOLECULAR SYNDROMOLOGY, 2021 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2021
  • Doi Number: 10.1159/000516816
  • Journal Name: MOLECULAR SYNDROMOLOGY
  • Journal Indexes: Science Citation Index Expanded, Scopus, EMBASE
  • Keywords: Turner syndrome, Congenital heart defects, Kidney diseases, Chromosomal aneuploidy, MALFORMATIONS, PREVALENCE, DIAGNOSIS, GUIDELINES, MANAGEMENT, WOMEN, GIRLS, CARE

Abstract

Turner syndrome (TS) is one of the most common malformation syndromes in females. A total number of 107 TS patients, diagnosed between 2000 and 2018, were evaluated for their phenotypic features, and cardiac and renal findings. The mean age of patients at admission was 10.08 +/- 4.9 years (range, newborn to 18 years). Four different karyotype groups were encountered, and the most common findings in all groups were short stature, followed by cubitus valgus. Echocardiographic findings of 85 patients were available among which 63 (n = 63/85, 74.1%) were found to be normal. The most common cardiac anomaly was left ventricular outflow tract/aortic arch pathology detected in 9 patients (n = 9/22, 40.9%). Renal malformations were detected in 15 patients (n = 15/84, 17.9%) by renal ultrasonography, and horseshoe kidney was the most common renal malformation, followed by left multicystic dysplastic kidney. There was no significant difference in the frequency of renal malformation and cardiac anomalies among the 4different karyotype groups (chi(2) exact test, p > 0.05). Compared with the literature, the frequency of renal anomalies was detected at a lower rate. Karyotype analysis should be carried out in all female patients with short stature, even if there are no associated phenotypic findings suggestive of TS. Since cardiac anomalies are frequently seen in TS patients and they represent a common cause of mortality, echocardiography should be carried out as soon as the definite diagnosis is established. Renal anomalies may be less frequent than cardiac anomalies; however, evaluation of TS patients with renal ultrasonography should be done at the time of diagnosis. Although renal ultrasonography can be used as the initial renal screening in TS patients, it may underestimate the frequency of renal malformation; hence, further management may be required.