Aplasia of nasal cilia with situs inversus, azoospermia and normal sperm flagella: a unique variant of the immotile cilia syndrome

Abstract

A 23-year-old man with situs inversus and bronchiectasis was investigated because of azoospermia. Serum levels of testosterone and pituitary gonadotropins were normal. Scrotal exploration revealed no abnormalities of the testes, epididymides or vasa deferentia. Electron microscopy of a testicular biopsy specimen revealed a normal sperm flagellum structure, including the presence of dynein arms but 2 separate biopsies of the nasal mucosa revealed complete ciliary aplasia. This case, which bears a striking resemblance to Young's syndrome (bronchiectasis and azoospermia), represents a unique variant of the immotile cilia syndrome.