Objective: To assess prevalence, clinical features, and follow-up of renal/urological malformations in patients with Turner syndrome (TS).
Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.
Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, and 1 (4.7%) duplex collecting system (DCS) associated with renal arteries abnormalities and vescico-ureteral reflux (VUR), 1 (4.7%) pelvic kidney and 1 (4.7%) crossed fused ectopia associated with DCS. In addition 5 (33%) patients with HSKs had associated urological anomalies: vesicoureteric reflux (1), DCS and VUR (1), pelvicureteric junction obstruction (1), calyceal and pelvic dilatation (2). In 12 patients (57%) urological anomalies were identified incidentally, in 7 (33.3%) diagnosis followed recurrent urinary tract infections (UTI) and the last 2 (4.7%) were diagnosed antenatally. Karyotype was 45,X0 in 9 (43%), mosaicism in the rest. Each patient had a renal ultrasound and DMSA to confirm the diagnosis, while three underwent micturating cystogram. On long-term follow 43% developed nephro-urological complaints: 3 (14%) were found to have renal parenchymal damage on DMSA scan, 2 (9.5%) recurrent UTI, 2 (9.5%) hypertension, 1 (4.7%) recurrent haematuria, and 1 (4.7%) progressed to chronic kidney disease stage 1. Only 1 (4.7%) patient required surgical intervention (pyeloplasty).
Conclusion: Urological anomalies were detected in 11.5% of our large series of patients with TS. Long-term follow-up of these patients shows that 43% of our study population developed a nephro-urological complaints, highlighting that once a urological anomaly is detected a close follow-up is warranted.