Background: Renal abnormalities are estimated to be present in 3040% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.
Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.
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, 1 (4.7%) duplex collecting system (DCS) associated with renal arteries abnormalities and vesicoureteral reflux (VUR), 1 (4.7%) pelvic kidney and 1 (4.7%) crossed fused ectopia associated with DCS. In addition 5 (33%) patients with HSK had associated urological anomalies: VUR (1), DCS and VUR (1), pelvic-ureteric 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) while 2 (4.7%) were diagnosed antenatally. Karyotype was 45,X in 9 (43%) with mosaicism in the rest and no correlation between karyotype and specific renal abnormalities (p, 0.265 OR 1.49 (95% CI 0.598, 3.716). Each patient had a renal ultrasound and DMSA to confirm the diagnosis, while 3 underwent micturating cystogram. On long term follow 9 developed nephro-urological complaints: 3 were found to have renal parenchymal damage on DMSA scan, 2 recurrent UTI, 2 hypertension, 1 recurrent haematuria, 1 progressed to chronic kidney disease stage 1. Only one patient required surgical intervention (pyeloplasty).
Conclusion: Renal anomalies were detected in about 12% of our large series of patients with TS. Most recent follow-up shows that 43% of our study population developed renal complaints, highlighting that once a urological anomaly is detected, close follow-up is warranted.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology