Microdeletions within the azoospermia factor subregions of the Y chromosome in patients with idiopathic azoospermia.
OBJECTIVE
To examine the patterns of submicroscopic DNA deletions in the AZF (AZoospermia Factor) subregions of the Y chromosome in patients with idiopathic azoospermia.


METHODS
Controlled clinical study.


METHODS
University-based infertility clinic.


METHODS
Infertile men (n = 40) with nonobstructive, idiopathic azoospermia. The control group consisted of proven fathers (n = 14) and healthy women (n = 4).


METHODS
None.


METHODS
Semen analysis; polymerase chain reaction amplification of the 37 loci spanning the AZFa, AZFb, and AZFc subregions of the Y chromosome; serum FSH, LH, and testosterone levels; and testicular histologic analysis.


RESULTS
Testicular histologic analysis of the subjects revealed Sertoli cell-only syndrome (n = 36) and spermatogenic arrest (n = 4). Microdeletions of the Y chromosome were found in eight (20%) of the patients with azoospermia. All eight affected patients had interstitial microdeletions within the AZFc subregion. Patients with Sertoli cell-only syndrome had additional microdeletions in regions distal to DAZ (Deleted in Azoospermia), although DAZ deletion was observed in seven of the eight affected patients. In five patients, microdeletions were found in the AZFb region containing RBM (RNA Binding Motif).


CONCLUSIONS
Our results add to the evidence supporting the current suggestion that there is a cause-and-effect relation between Yq11 microdeletions in the AZF region and azoospermia.
Kim
S W
SW
Department of Urology, Seoul National University College of Medicine, Korea.
Kim
K D
KD
Paick
J S
JS
D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009845:Oligospermia / Q000097:blood / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012016:Reference Values; D017384:Sequence Deletion; D012708:Sertoli Cells / Q000473:pathology; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000473:pathology; D014998:Y Chromosome
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone