Purpose: We present additional clinical evidence for the suspected ass
ociation of Doum's syndrome and testicular germ cell tumors. Materials
and Methods: Four cases of Down's syndrome and testicular cancer are
reported, The literature was reviewed for previous cases and analysis
regarding common features. Results: The 4 patients were 29 to 35 years
old and had clinical stage I seminoma of the testis. Two patients rec
eived prophylactic abdominal radiotherapy, 1 is being followed and 1 r
eceived adjuvant carboplatin treatment. There was no relapse at follow
up of 1 to 8 years. One patient also had contralateral cryptorchidism.
A total of 16 cases with the association of Down's syndrome and testi
cular germ cell cancer was documented previously. Conclusions: Evidenc
e for the suspected association of Down's syndrome and testicular canc
er is now accumulating. Etiologically it is suspected that, along with
genetically determined malformations in many other organs in trisomy
21, the gonads also undergo maldevelopment, thus creating the conditio
ns for step 1 of germ cell tumor oncogenesis in utero. Physicians cari
ng for patients with Down's syndrome should be aware of the possible a
ssociation with testicular neoplasms.