Microdeletions on the long arm of the Y chromosome and their association with male-factor infertility

C Briton-Jones, CJ Haines
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong

Significant advances in treatment have enabled previously infertile males to achieve fatherhood, when only a few years ago they would have had no chance of biological paternity. In contrast to the overall success of assisted reproduction, the aetiology of male-factor infertility is poorly understood. Recent studies have shown, however, that a significant proportion of men with severe infertility have microdeletions of the Y chromosome. Furthermore, reports have shown that male infants conceived through assisted reproductive techniques have inherited the same Y-chromosome microdeletion as their fathers. It has thus become important to screen men who are at risk of Y-chromosome microdeletions, as this will determine if counselling is needed prior to starting infertility treatment. This review examines the significance and limitations of the current understanding of Y-chromosome microdeletions in male infertility.

Hong Kong Med J 2000;6:184-9

Key words: Infertility, male/genetics; Oligospermia/genetics; Sequence deletion; Sequence tagged sites; Y chromosome