International Journal of Diseases and Disorders

International Journal of Diseases and Disorders Vol. 1 (1), pp. 001-006, March, 2013. © International Scholars Journals

Case report  

Ring Y chromosome, review and case report

A.M Attia1, H.A Yasien1

1Andrology unit, Menoufiya UV, Shebin Elkom, Menoufiya, Egypt.

*Corresponding Author. E-mail: Yasienhossam@yahoo.comTel: 00201145542541

Received 12 November, 2012; Accepted 29 March 2013

Abstract

Chromosomal aberrations seem to emerge as a cause of idiopathic oligo-atheno-teratozoospermia. 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.    

Key words: Ring Y chromosome, ICSI, oligozoospermia.