Management of males with 45,X/46,XY gonadal dysgenesis

Males with the 45,X/46,XY karyotype and malformations of the external genit alia carry an increased risk of developing germ cell neoplasia of the gonad s. We have studied gonadal tissue from 10 individuals, 0.3-17 years of age, with a male phenotype and either hypospadias and/ or cryptorchidism. Four patients, 0.3-15 years of age, had carcinoma in situ, 1 boy had Sertoli-cel l-only pattern and the remainder prepubertal histology, Gonadoblastoma or i nvasive carcinoma was not found. On the basis of our current knowledge we p ropose a strategy for management and follow-up of these boys in order to de tect possible premalignant histological changes early and prevent developme nt of a gonadal tumour. Copyright (C) 2000 S. Karger AG, Basel.