Relationship between microdeletion on Y chromosome and patients with idiopathic azoospermia and severe oligozoospermia in the Chinese.
OBJECTIVE
To evaluate the relationship between microdeletion or mutation on the Y chromosome and Chinese patients with idiopathic azoospermia and severe oligozoospermia and 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, including 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 or SRY 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 infertility in China. It is recommended that patients have genetic counseling and microdeletion detection on the Y chromosome before intracytoplasmic sperm injection.
Fu
Junjiang
J
Laboratory of Human Reproductive Engineering, Central South University Xiangya Medical College, Changsha 410078, China. junjiang@public.cs.hn.cn
Li
Luyun
L
Lu
Guangxiu
G
D002872:Chromosome Deletion; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D020554:Sperm Injections, Intracytoplasmic; D014998:Y Chromosome