Relationship between microdeletion on Y chromosome and patients with idiopathi c azoospermia and severe oligozoospermia in the Chinese

Objectives To evaluate the relationship between microdeletion or mutation on the Y chromoso me and Chinese patients with idiopathic azoospermia and severe oligozoospermia a nd to establish a molecular detection method. Methods Microdeletion or mutation detection at the AZFa (sY84 and USP9Y), AZFb, AZFc/DAZ and SRY regions of the Y chromosome.Seventy- three azoospermia and 28 severe oligozoospermia patients were evaluated using PCR and PCR- SSCP techniques. Results Twelve of 101 patients (12%) with the AZFc/DAZ microdeletion were found, includi ng 8 with azoospermia (11%) and 4 with severe oligozoospermia (14. 3%), and 1 patient had a AZFb and AZFc/DAZ double deletion.No deletions in the AZFa o r SR Y regions were found.No deletions in AZFa, AZFb, AZFc/DAZ or SRY regions were found in 60 normal men who had produced one or more children. Conclusions Microdeletion on the Y chromosome, especially at its AZFc/DAZ regions, may be a major cause of azoospermia and severe oligozoospermia leading to male infertilit y in China.It is recommended that patients have genetic counseling and microde letion detection on the Y chromosome before intracytoplasmic sperm injection.