Abstract
We demonstrated that infertility develops in most patients with steroid 5alpha-reductase 2 deficiency. We compared the testicular histopathology of boys with steroid 5alpha-reductase 2 deficiency to that of boys with isolated bilateral cryptorchidism. Testes with steroid 5alpha-reductase 2 deficiency lacked spermatocytes but had Ad spermatogonia and a normal germ cell count. In contrast, bilateral cryptorchid testes had severe germ cell depletion and the majority lacked Ad spermatogonia. In patients with steroid 5alpha-reductase 2 deficiency the impaired second step of germ cell maturation results in defective transformation of spermatogonia into spermatocytes. The position of the undescended testis appears to have no major pathological impact on the development of germ cells in patients with steroid 5alpha-reductase 2 deficiency.
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