An unusual reciprocal X-autosome translocation in an infertile azoospermic man.
OBJECTIVE
To analyze an unusual reciprocal X-autosome translocation found in an infertile man with azoospermia.


METHODS
Case report with a review of scientific literature.


METHODS
Male infertility clinic, Kobe University Hospital.


METHODS
Infertile man with azoospermia but otherwise apparently healthy.


METHODS
Peripheral blood lymphocytes were obtained for karyotyping, and metaphases were studied by fluorescence in situ hybridization procedure.


METHODS
Seminal analysis, hormone levels, volume of testis, and pathologic analysis of testis were performed.


RESULTS
The semen analysis revealed azoospermia. The lymphocytic karyotype showed a man with X-autosome translocations. Histopathologic examination of the sample showed maturation arrest.


CONCLUSIONS
This is the first clinical report of azoospermia with reciprocal X-autosome 11 translocations. This translocation may be a direct genetic risk factor for maturation arrest.
Ishikawa
Tomomoto
T
Division of Urology, Department of Organs Therapeutics, Faculty of Medicine, Kobe University Graduate School of Medicine, Kobe, Japan. iskwtmmt@med.kobe-u.ac.jp <iskwtmmt@med.kobe-u.ac.jp>
Kondo
Yutaka
Y
Yamaguchi
Kohei
K
Oba
Takeshi
T
Sakamoto
Yuichi
Y
Takenaka
Atsushi
A
Fujisawa
Masato
M
D053713:Azoospermia / Q000235:genetics*; D041321:Chromosomes, Human, X; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D014176:Protein Biosynthesis; D012729:Sex Chromosome Aberrations