Atypical germ cells in a child with splenic-gonadal fusion

Splenic-gonadal fusion is a rare congenital anomaly associated with other anomalies, particularly limb defects. This is the first reported case of splenic-gonadal fusion, tetraperomelia (congenital malformations involving all 4 extremities), and spinal abnormality with neurogenic bladder, in which focal atypia of germ cells was found following orchiectomy. Testicular biopsy with frozen section examination should be performed if the diagnosis of splenic-gonadal fusion is made, especially if associated with cryptorchidism and an orchiopexy is planned.