Varón XYY con azoospermia

The anomalies that involve sexual chromosomes are the most frequent of all chromosomal alterations. Approximately 1 in every 1000 males carries an additional Y chromosome, either in pure form (47, XYY) or in diverse mosaicisms variants. There is wide variability in the clinical presentation and prognosis of sexual chromosome anomalies. In XYY males various phenotypic and behavioral characteristics have been described. The gonadal and reproductive functions in adult XYY males are usually normal and these individuals are usually fertile. We describe the case of a 45-year-old man with primary infertility due to azoospermia with germ cell aplasia in testicular biopsy. Cytogenetic study showed an XYY karyotype without microdeletions of the AZF region of Y chromosomes. The main aspects of XYY syndrome are outlined, and its variable clinical presentation is emphasized.