One to Watch: A Germ Cell Tumor Arising in an Undescended Testicle in Rubinstein-Taybi Syndrome.
A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest. Given the frequency of undescended testes in this population, closer screening may be warranted.
*Our Lady's Childrens Hospital, Crumlin †Children's University Hospital, Temple Street, Dublin, Ireland.
Grainne H
GH
Butler
Michael
M
Boyle
Sally Ann
SA
Lynch
Stephanie
S
Ryan
Michael
M
McDermott
Michael
M
Capra
D003456:Cryptorchidism / Q000150:complications*; D006801:Humans; D007223:Infant; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000473:pathology* / Q000601:surgery; D012415:Rubinstein-Taybi Syndrome / Q000150:complications*; D013736:Testicular Neoplasms / Q000473:pathology* / Q000601:surgery