Semen analyses were performed in nine male pseudohermaphrodites with inherited 5 alpha-reductase-2 deficiency and decreased dihydrotestosterone (DHT) production. The semen samples were characterized by extremely low volume (range, < 0.05 to 1.0 mL), increased viscosity, and poor liquefaction. Surgical correction of pseudovaginal perineoscrotal hypospadias in four subjects did not result in an increase in semen volume or a change in viscosity. Inexplicably, semen liquefaction reverted to normal. Affected males have rudimentary prostates and small seminal vesicles. Six subjects had bilaterally descended testes, one subject had bilaterally retractile testes, and two subjects had unilaterally undescended testes. Semen from one subject with bilaterally descended testes had a normal sperm concentration, normal total sperm count, and normal motility and morphology. Semen from another subject who was oligospermic at baseline demonstrated a normal sperm concentration after hypospadias repair, with a low total sperm count. The other subjects studied were oligospermic or azospermic. In summary, DHt appears to regulate semen volume and viscosity through its action on the development and function of the prostate and seminal vesicles. The finding of normal sperm concentrations in two subjects with 5 alpha-reductase-2 deficiency suggests that DHT does not play a major role in spermatogenesis. However, the possibility that low levels of DHT might be sufficient for normal spermatogenesis must also be considered.
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