Azoospermia in a man with a constitutional ring 22 chromosome

Abstract

A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phenotypically normal individual. Testicular cytological analysis showed hypospermatogenesis with a complete spermatogonial arrest. The majority of subjects with constitutional r(22) are dysmorphic and mentally retarded due to deletion of a sizable segment of the chromosome 22q. Only a few cases of r(22) chromosome are known in which deletion of the very distal telomeric regions is associated with unremarkable phenotype and fertility, both in males and females. The present patient is the first example of male infertility associated with this cytogenetic anomaly. It is likely that infertility arose from a mechanical block of meiosis, resulting from pairing failure of chromosomes 22, similarly to azoospermia occurring in few known males with r(21) chromosomes.