LEYDIG-CELL NEOPLASIA IN A PATIENT WITH REIFENSTEIN SYNDROME

We present the rare coincidence of a Leydig cell tumor in both testicl es of a patient with partial androgen insensitivity syndrom (PAIS). Th e clinical picture with perineoscrotal hypospadia, micropenis, gynecom astia and delayed puberty and the serum hormone levels with elevated c oncentrations of testosterone, luteinising hormone (LH) and follicle-s timulating hormone were entirely consistent with PAIS. Ultimately, the diagnosis was confirmed by determination of genital skin fibroblast a ndrogen receptor binding capacity for 5 beta-dihydrotestosterone, whic h demonstrated a qualitatively abnormal androgen receptor. At 44 years of age, a nodule in the left testis led to orchidectomy. At that time , the right testis was inconspicuous sonographically. But 3 years late r the right testis developed nodules and was removed. Review of testic ular histology revealed the presence of Leydig cell hyperplasia (LCH), multifocal nodular hyperplasia and Leydig cell neoplasia (LCN) in bot h testes. Many micronodules of Leydig cells in transition from hyperpl asia to neoplasia were also identified. The simultanous development of histologically identical nodes of LCN independently from each other a nd a different sites of both tests indicates the presence of a tumorog enic factor acting on the Leydig cells. Furthermore, the observation o f multiple foci of cells in all stages of transition from hyperplasia to neoplasia demonstrates the persistent process of transformation. We speculate, that in this patient the grossly elevated LH levels presen t over 30 years have enhanced, if not provoked, the formation of LCN. In addition, the defective androgen receptor might have prevented supp ressive effects of androgens on the Leydig cells.