Late Histopathological Features of Testis Tissue in a Patient With Male Pseudohermaphroditism Due to Leydig Cell Aplasia

Abstract

Leydig cell aplasia is a rare form of male pseudohermaphroditism. We determined Leydig cell aplasia in a 39 yr old patient, grown up as a female, with female external genitalia and primary amenorrhea. Gonads were bilaterally palpable in the inguinal regions. Karyotype was 46, XY. Hormonal evaluation revealed markedly elevated gonadotropin levels with a low testosterone, which failed to increase after human chorionic gonadotropin stimulation. In Leydig cell aplasia, classically, testicular histology reveals seminiferous tubules, whereas Leydig cells are not present or appear only as immature forms. In addition to classical features of Leydig cell aplasia, we determined diffuse fibrosis, atrophy, interstitial edema and marked thickness in lamina propria of seminiferous tubules, and although Sertoli cells were seen, no germ cell was present. Very long duration of undescended testes (cryptorchidism) may be responsible for these additional histopathological changes. Becasue of a criptorchid testis is more likley to undergo malignant degeneration than normal testes, many urologists recommend orchiectomy for unilaterally undescended testicle.