Abstract

Five patients from two families had a bronchiectasis syndrome; the men also had oligospermia with poor progressive sperm motility. None of the patients had cystic fibrosis, alpha 1 antitrypsin deficiency, immunoglobulin deficiency, structural abnormalities of the bronchi, or abnormalities of ciliary ultrastructure. Onset of pulmonary symptoms was in the neonatal period or infancy, and bronchitis and bronchiectasis were most severe in the middle and lower lobes. Two patients had sinusitis and two otitis. The two men old enough to be studied had 2-10 X 10(6) sperm/ml of ejaculate with less than 10% progressively motile. There were no other associated anomalies. These patients probably had a distinct genetic error predisposing to pulmonary infection leading to bronchiectasis and, in men, oligospermia with poor progressive motility.