Y chromosome (Yq11) microdeletions in idiopathic azoospermia.
BACKGROUND
Cytogenetic anomalies and molecular deletions of the Y chromosome in idiopathically sterile men suggest that genetic factor(s) controlling spermatogenesis are located in the distal portion of Yq11. We studied Y chromosome microdeletions in the Yq11.23 region in idiopathic azoospermia.


METHODS
We studied 25 azoospermic male patients with a cytogenetically normal 46XY karyotype; 13 exhibited Sertoli-cell-only syndrome and 12 exhibited maturation arrest. Microdeletions in the Yq11 region were examined using the PCR technique with 4 pairs of primers from DNA loci in Yq11.23.


RESULTS
Microdeletions in Yq11.23 were detected in 4 of the 25 azoospermic men. The most common deletion was of the Y6HP52pr sequence, which was detected in 3 of 13 men with Sertoli-cell-only syndrome but in only 1 of 12 with maturation arrest.


CONCLUSIONS
Detection of microdeletions within the Yq11 sequence is an important clue to the genetic factor(s) underlying azoospermia.
Shirakawa
T
T
Department of Urology, Kobe University School of Medicine, Japan.
Fujisawa
M
M
Kanzaki
M
M
Okada
H
H
Arakawa
S
S
Kamidono
S
S
D000328:Adult; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D012671:Seminiferous Tubules / Q000473:pathology; D014998:Y Chromosome