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The World Health Organization conservatively estimates that 80 million people suffer from infertility worldwide. Male factors are believed to be responsible for 20–50% of all infertility cases, but microdeletions of the Y chromosome are the only genetic defects altering human spermatogenesis that have been reported repeatedly 1 . We focused our work on infertile men with a normal somatic karyotype but typical spermatozoa mainly characterized by large heads, a variable number of tails and an increased chromosomal content (OMIM 243060) 2 , 3 , 4 . We performed a genome-wide microsatellite scan on ten infertile men presenting this characteristic phenotype. In all of these men, we identified a common region of homozygosity harboring the aurora kinase C gene ( AURKC ) with a single nucleotide deletion in the AURKC coding sequence. In addition, we show that this founder mutation results in premature termination of translation, yielding a truncated protein that lacks the kinase domain. We conclude that the absence of AURKC causes male infertility owing to the production of large-headed multiflagellar polyploid spermatozoa.

To the Editor: Pregnancies have been induced in patients with ovarian dysfunction, repeated failure of embryo formation after in vitro fertilization, or primary ovarian failure, through either embryo donation or in vitro fertilization of a donated ovum with a partner's sperm. When a treatment necessitates the sterilization of a young woman, prior collection and freezing of oocytes could theoretically preserve her genetic potential to conceive, through later thawing, in vitro fertilization, and embryo transfer during a substitute cycle. Similar procedures for preserving a patient's own sperm are widely performed before treatments that may sterilize a man. Unfortunately, the success rates . . .