Microdeletion of the DAZ (deleted in azoospermia) gene or the YRRM (Y chromosome ribonucleic acid recognition motif) gene does not occur in patients with Klinefelter's syndrome with and without spermatogenesis.
OBJECTIVE
To evaluate the occurrence of microdeletions of the Y chromosome involving the DAZ and YRRM genes in patients with Klinefelter's syndrome with and without spermatogenesis.


METHODS
Controlled clinical study.


METHODS
Yamagata University Hospital, Yamagata, Japan.


METHODS
Patients with Klinefelter's syndrome with spermatogenesis (n = 1) and without spermatogenesis (n = 20) and a control group of men of proven fertility (n = 10).


METHODS
Blood and semen sampling and testicular biopsy.


METHODS
Semen analysis, polymerase chain reaction amplification of 32 DNA loci on the long arm of the Y chromosome involving the DAZ (deleted in azoospermia) and YRRM (Y chromosome ribonucleic acid recognition motif) genes, and measurement of plasma FSH, LH, and testosterone levels.


RESULTS
No microdeletions of 32 loci were found in any of the patients with Klinefelter's syndrome, either with or without spermatogenesis. Plasma LH and FSH levels were abnormally high and testosterone levels were reduced in all the patients with Klinefelter's syndrome. American Society for Reproductive Medicine.)


CONCLUSIONS
Severe impairment of spermatogenesis in patients with Klinefelter's syndrome is not caused by microdeletions of the Y chromosome involving the DAZ and YRRM genes.
Tateno
T
T
Department of Urology, Yamagata University School of Medicine, Japan.
Sasagawa
I
I
Ichiyanagi
O
O
Ashida
J
J
Nakada
T
T
Saito
H
H
Hiroi
M
M
D004247:DNA / Q000032:analysis; D000075364:Deleted in Azoospermia 1 Protein; D005640:Follicle Stimulating Hormone / Q000097:blood; D017353:Gene Deletion; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics*; D012661:Semen; D013076:Sperm Count; D013081:Sperm Motility; D013091:Spermatogenesis; D013739:Testosterone / Q000097:blood; D014998:Y Chromosome
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D004247:DNA