Young's syndrome associated with situs inversus totalis

Primary ciliary dysfunction causes recurrent sino-pulmonary infections and shares the pathophysiology of the reproductive tract. A 34-year old man with bronchectasis and situs inversus totalis was investigated because of azoospermia. Endocrinological evaluations were all normal and scrotal exploration revealed the distended caput, but atrophic body to tail, of the epididymis. Light microscopy of testicular biopsy showed normal spermatogensis and motile sperms were easily obtained by testicular sperm extraction. Electron microscopy demonstrated normal sperm structure, whereas 65% of nasal cilias showed defect of central microtubules. This case, which bears a resemblance of Kartagener's syndrome (situs inversus totalis), is considered a unique variant of Young's syndrome.