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Young's Syndrome — Obstructive Azoospermia and Chronic Sinopulmonary Infections

List of authors.
  • David J. Handelsman, M.B., B.S.,
  • Ann J. Conway, M.B., B.S.,
  • Lyn M. Boylan, S.R.N.,
  • and John R. Turtle, M.D.

Abstract

We studied 29 men with Young's syndrome, a combination of obstructive azoospermia and chronic sinopulmonary infections. Men with this syndrome have only mildly impaired respiratory function and normal spermatogenesis; the azoospermia is due to obstruction of the epididymis by inspissated secretions. The diagnosis is based on the occurrence of chronic sinopulmonary infections, persistent azoospermia, normal spermatogenesis, and characteristic epididymal findings, as well as exclusion of cystic fibrosis and the immotile-cilia syndrome. The sperm themselves appear to be normal in Young's syndrome. Pregnancies had occurred in five couples; in three paternity was documented by genotyping. Thus, improved microsurgical and medical therapy might restore fertility. We suggest that Young's syndrome has a prevalence comparable to that of Klinefelter's syndrome and is a common cause of both chronic sinopulmonary infection and azoospermia. (N Engl J Med 1984; 310:3–9.)

Funding and Disclosures

Supported by the National Health and Medical Research Council of Australia.

We are indebted to M. O'Halloran (Royal Alexandria Hospital for Children) for performing the sweat tests, to the staffs of the endocrinology, fertility, hematology, and immunology laboratories for performing semen analysis and various blood tests, to the Staff of the respiratory laboratory for performing the tests of lung function, to Drs. P. Torzillo, J. Boulas, and D. Pennington for referral of patients and helpful discussion, and to Dr. H. W. G. Baker for drawing our attention to this disorder.

Author Affiliations

From the Department of Medicine, University of Sydney, and the Endocrinology Unit, Royal Prince Alfred Hospital, Camperdown, Sydney, NSW, Australia. Address reprint requests to Dr. Handelsman at the Department of Medicine, University of Sydney, 2006, NSW, Australia.

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