Retrospective Evaluation of Urological Problems in Rare Childhood Syndromes

Objective Rare syndromes are defined as diseases that affect a small number of people compared to the general population. In the literature, rare syndromes have variable definitions according to countries. In this study, patients diagnosed with various rare syndromes who were referred to the pediatric urology clinic were examined in terms of associated urological anomalies. Patients and methods In this study, patients who were referred to our outpatient clinic between 2017 and 2022 with a diagnosis of a rare syndrome with or without urological or urogenital findings were retrospectively analyzed. The urinary system ultrasonography and scrotal ultrasonography of the patients were also recorded. Comorbidities, diseases, and surgeries they had undergone were determined through detailed medical history. Results A total of 32 patients were identified. Eleven (35%) of the patients were female and 21 (65%) were male. The average age of the patients was 6.5 years. The syndromes observed in the patients, in order of frequency, were microdeletion syndromes (n = 4), Roberts syndrome (n = 3), and Ehlers-Danlos syndrome (n = 2), and a variety of different syndromes were found in the remaining 22 patients. Despite having no symptoms, the second patient was found to have left hydronephrosis, and the third patient was found to have right renal ectopia on their urinary system ultrasound. Pathological findings were observed in 10 (31.2%) patients on their urinary system ultrasound. Conclusion Although only a small portion of these findings require surgery, the presence of urological anomalies should be investigated. Therefore, we recommend urological evaluation for all patients with rare syndromes, regardless of whether they have symptoms or not.