Ring Y chromosome, review and case report

Abstract

Chromosomal aberrations seem to emerge as a cause of idiopathic oligo-athenoteratozoospermia. Ring Y chromosome – as one of these aberrations- though rare, should be
considered or excluded in cases of ambiguous genitalia, severe oligozoospermia, morphologic
abnormalities and especially before Intra-Cytoplasmic Sperm Injection (ICSI) in suspicious cases.
We report a 34 year old male patient, completely androgenized but short, complaining of failure of
conception for 7 years. Medical treatment was tried and varicocelectomy were done but in vain.
ICSI was tried 7 times; one of them resulted in pregnancy which was aborted 40 days later for an
unexplainable cause. Karyotyping revealed 46Xr(Y)/45X genotype and Polymerase Chain Reaction
(PCR) for Azoospermic Factors (AZFs) microdeletion revealed preserved genes. We concluded
that other genes that are responsible for spermatogenesis which could cause infertility could be
deleted during ring formation; and the lethal ring Y chromosome may be the cause of failure of
ICSI. So, sex selection of the X bearing sperms during ICSI may give hope of fecundity.