Recurrent respiratory disease, azoospermia, and nasal polyposis. A syndrome that mimics cystic fibrosis and immotile cilia syndrome.
Three adult men with chronic sinopulmonary disease, nasal polyposis, and azoospermia were studied. All had normal sweat chloride values and pancreatic function. The azoospermia was due to a block in the epididymis that was distinguishable from the defect in the vas deferens seen in cystic fibrosis. Cilia structure was normal in sperm tails from testicular biopsy specimens and in cilia from tracheal biopsy specimens. These cases represent a clinical entity distinct from cystic fibrosis and known immotile cilia disorders.
D000328:Adult; D002908:Chronic Disease; D002925:Ciliary Motility Disorders / Q000175:diagnosis; D003550:Cystic Fibrosis / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D008875:Middle Aged; D009298:Nasal Polyps / Q000175:diagnosis*; D009845:Oligospermia / Q000175:diagnosis*; D010186:Pancreatic Function Tests; D010254:Paranasal Sinus Diseases / Q000175:diagnosis*; D012965:Sodium Chloride / Q000032:analysis; D013094:Spermatozoa / Q000648:ultrastructure; D013542:Sweat / Q000032:analysis; D013577:Syndrome
D012965:Sodium Chloride