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A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility¹

Immunogénétique Humaine, INSERM U-276, Institut Pasteur (C.K., L.Q.-M., S.B., N.S.-T., G.P., T.B., M.F., K.M.), Paris, France; Laboratoire d’Histologie, Biologie de la Reproduction et Cytogenetique, Hôpital Tenon (J.-P.S., J.-P.D.), Paris, France; Institut Pasteur (H.R.), Casablanca, Morroco; Médecine de la Reproduction (D.D.), Paris, France; Service d’Urologie (G.A.) and Service de Gynecologie Obstetrique (J.M.A.), Hôpital Tenon, Paris, France; Hajnal Imre Egeszsegtudomanyi Intezet (E.E.), Budapest, Hungary; Clinique de la Dhuys (J.P.T.), Paris, France; Buda Children Hospital (A.T.), Budapest, Hungary; Cytogénétique, CHU Mulhouse (E.J.), France; and CHU (G.P.), Caen, France

Address all correspondence and requests for reprints to: Dr. Ken McElreavey, Immunogenetique Humaine, Institut Pasteur, 25 rue du Dr Roux, Paris Cedex 15, France 75724.

Microdeletions of the long arm of the human Y chromosome are associated with spermatogenic failure and have been used to define three regions of Yq (AZFa, AZFb, and AZFc) that are recurrently deleted in infertile males. In a blind study we screened 131 infertile males (46 idiopathic and 85 nonidiopathic) for Y chromosome microdeletions. Nineteen percent of idiopathic males, with an apparently normal 46,XY chromosome complement had microdeletions of either the AZFa, AZFb, or AZFc region. There was no strict correlation between the extent or location of the deletion and the phenotype. The AZFb deletions did not include the active RBM gene. Significantly, a high frequency of microdeletions (7%) was found in patients with known causes of infertility and a 46,XY chromosome complement. These included deletions of the AZFb and AZFc regions, with no significant difference in the location or extent of the deletion compared with the former group. It is recommended that all males with reduced or absence sperm counts seeking assisted reproductive technologies be screened for deletions of the Y chromosome.

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