The Frequency of Anatomical Renal, Thyroid, Hepatic, and Cardiac Abnormalities in Patients with Turner Syndrome

Turner syndrome is the most common chromosomal X-linked disorder worldwide. This syndrome can be presented with diverse genotypes, and may be accompanied by various anatomical abnormalities. This study aimed to make a view to patients with Turner syndrome thorough ultrasound and echocardiographic evaluations.

The current study was conducted on 75 patients with Turner syndrome undergone karyotyping. Ultrasound study was performed to assess renal, hepatic, and thyroid anomalies. Echocardiography was done to evaluate cardiac anomalies.

The patients with Turner syndrome had the mean age of 15.29 ± 5.01 years, among which, 55 (73.3%) were 45X, 14 (18.6%) 45X/46XX, and 6 (8.0%) had structural X chromosome abnormality. Generally, 20 patients (26.6%) had anatomical urogenitory pathology, including horse-shoe kidney in 9 (12.0%), duplicated urinary collected syndrome in 8 (10.7%), and renal malrotation in 7 (9.3%) patients. Abnormal thyroid echo was found in 19 (25.3%), thyroid nodule in 21 (28.0%), and thyroid pseudonodule in 15 (20%) patients. 14 patients (18.6%) had hepatosteatitis. Echocardiographic studies revealed structural anomalies in 42 patients (56%) among which aortic bicuspid valve in 17 (22.6%) and coarectation of aorta in 10 patients (13.3%) were the most common ones, respectively.

A remarkable population of patients with Turner syndrome suffer from anatomical renal, thyroid, hepatic, and cardiac abnormalities.