[Y-autosome translocation associated with male infertility: a case report]

A 40-year-old man was referred to our hospital with a 12-year history of infertility. He was a well developed male weighing 78 kg with a height of 171 cm. Physical examinations revealed male habitus with normal adult pubic and axillary hair. The penis, epididymides, spermatic cords and prostate were normal. The right testis was about 15 ml in volume and left ne was approximately 12 ml, respectively. Repeated semen analyses showed azoospermia except for only one time when 4 immotile sperm were detected. The plasma levels of lactate hydrogenase, follicle stimulating hormone prolactin and testosterone were within normal limits. Chromosome analysis of peripheral lymphocytes revealed a balanced reciprocal translocation between the short arm of chromosome 12 and the long arm of the Y chromosome (46, X, t (Y ; 12) (q12 ; p13.3)). We performed microdissection testicular sperm extraction and retrieved 11 spermatozoa (10 progressive motile). Seminiferous epithelium showed maturation arrest at the stage of spermatid. Mean Johnsen's score count was 6. The etiology and clinical features of this rare disease were briefly discussed.