[AZF microdeletions on the Y chromosome in infertile Chinese men: a five-year retrospective analysis].
OBJECTIVE
The past few years have seen great progress in the studies of the relationship between AZF microdeletions and male infertility. However, some molecular and clinical concerns are not supported by definitive data. The aim of this study was to investigate the prevalence and types of AZF microdeletions in infertile Chinese men, and the indications for genotype-phenotype correlation.


METHODS
We retrospectively analyzed Y chromosome AZF microdeletions among 502 patients with nonobstructive azoospermia and 306 with severe oligozoospermia received in our hospital during the past five years.


RESULTS
Microdeletions were detected in 7.80% of the patients (63/808), 9.16% in the men with nonobstructive azoospermia (46/502) and 5.56% in those with severe oligozoospermia (17/306). Complete AZFa and AZFb (P5/Proximal P1) deletions were associated with azoospermia, whereas AZFc deletion with variable spermatogenic phenotypes. A mild decline in sperm concentration was found in one male with partial AZFb deletion. The most frequent deletion was the AZFc b2/b4 subtype (60.32%, 38/63), and 39.47% of the cases (15/38) had sperm in the ejaculate. Of the 63 deletions, only one case of the AZFc b2/b4 type had a sperm concentration of over 2 million sperm/ml.


CONCLUSIONS
AZF microdeletions play a significant role in the diagnosis and evaluation of spermatogenic defects. Larger-scale clinical researches on Y chromosome microdeletions may give us a deeper insight into their mechanism and the genotype-phenotype relationship.
Shi
Yi-Chao
YC
Center for Reproduction and Genetics, Research Institute of Clinical Laboratory Medicine, Nanjing University School of Medicine/Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.
Cui
Yi-Xia
YX
Wei
Li
L
Zhou
Yu-Chun
YC
Shao
Yong
Y
Xia
Xin-Yi
XY
Shang
Xue-Jun
XJ
Zhu
Wei-Ming
WM
Huang
Yu-Feng
YF
D000328:Adult; D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D056426:Genetic Loci; D006801:Humans; D008297:Male; D008875:Middle Aged; D009845:Oligospermia / Q000235:genetics*; D012189:Retrospective Studies; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
D029589:Seminal Plasma Proteins