Pediatric surgery international · 2025
Testicular cytology and semen analysis in 46, XY differences/disorders of sex development (DSD): implications for fertility.
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Gazula Suhasini, Sharma Shilpa, Iyer Venkat K, Gupta Devendra K
Аннотация
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.
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.