INTRODUCTION: Young's syndrome is part of primary ciliary dyskinesia, characterized by repeated airway infections and congenital epididymis obstruction. CASE REPORT: The authors present the case of a 28-year old male with recurrent rhinosinusitis and pneumonia. Sweat and immunologic tests fell within the normal range. Sperm analyses revealed absence of spermatozoa although spermatogenesis was normal according to the findings in testis biopsy. DISCUSSION: The final diagnosis was Young's syndrome the first case of the disease reported in Brazilian literature. CONCLUSIONS: The authors emphasize the need for appropriate diagnosis and genetic counselling as well as differential diagnosis with cystic fibrosis in these cases.
Chronic respiratory infection; Primary mucociliary transport failure; Young's syndrome