Testicular cytology and semen analysis in 46, XY differences/disorders of sex development (DSD): implications for fertility.

PURPOSE: The fertility potential of with 46,XY DSD individuals has remained poorly understood. This study aimed to assess testicular cytology and semen analysis findings in post-pubertal patients with 46,XY DSD.

METHOD: Following ethical approval, a cohort of post-pubertal (> 13 years) patients with 46,XY DSD assigned a male gender was evaluated through a personal interview, clinical examination, and hormonal assay. Prostatic and testicular volumes and echotexture were assessed. Semen analysis and testicular cytology were also performed.

RESULTS

Of the 75 eligible patients, 17 responded. The mean age at the time of study was 17(± 3.33) years, with a follow-up of 160 (± 68.28) months. All patients reported comfort with male gender assignment. The median stretched penile length was 6 cm, and clinically assessed testicular volumes were within normal limits. However, prostate volumes were small, and prostate-specific antigen (PSA) levels were undetectable in one-third. Semen analysis revealed that 6 patients were unable to ejaculate, 4 had aspermia, 4 had oligospermia, and 3 had azoospermia. Testicular FNAC demonstrated normal spermatogenesis in only 6 patients. The median spermatogenic-to-Sertoli cell ratio was 0.84, markedly lower than the normal expected value. Notably, several patients with normal spermatogenesis on FNAC had abnormal semen analysis findings.

CONCLUSIONS

Despite overall comfort with male gender assignment and normal hormonal profiles, both semen analysis and testicular cytology revealed compromised fertility potential in post-pubertal patients with 46,XY DSD.