Azoospermia and paternal autosomal ring chromosomes: case report and literature review

Two men of the same family presented with ring chromosome 22 and azoospermia. The literature on all autosomal ring chromosomes and semen abnormalities was reviewed. Autosomal ring chromosomes were often associated with a low sperm count. This is probably as a result of gamete instability at meiosis due to the ring chromosome which leads to an increased breakdown. In addition, ring chromosomes transmitted from the parents may manifest quite differently in the progeny. Prior to treating these patients with assisted reproduction, appropriate counselling should be offered, in view of the varying phenotypic manifestations of ring chromosomes in the resulting progeny, and prenatal diagnosis or preimplantation diagnosis must be considered.Two men of the same family presented with ring chromosome 22 and azoospermia. We reviewed literature on the presence of semen abnormalities in males with ring chromosomes. Autosomal rings chromosomes were often associated with a low sperm count. This is probably due to altered chromosome division due to the ring chromosome at meiosis leading to an increased chromosome breakdown resulting in poor spermatogenesis. In addition, ring chromosomes transmitted from the parents may manifest quite differently in the offspring and at times have more severe characteristics. Prior to treating these patients with assisted reproduction, appropriate counselling should be offered. Prospective parents should be fully aware of the varying manifestations of ring chromosomes in the resulting progeny and should consider embryo biopsy or tests during pregnancy to ensure that the offspring has the right chromosomes.