title: Management of males with 45,X/46,XY gonadal dysgenesis.
abstract: Males with the 45,X/46,XY karyotype and malformations of the external genitalia carry an increased risk of developing germ cell neoplasia of the gonads. 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-cell-only pattern and the remainder prepubertal histology. Gonadoblastoma or invasive carcinoma was not found. On the basis of our current knowledge we propose a strategy for management and follow-up of these boys in order to detect possible premalignant histological changes early and prevent development of a gonadal tumour.
authors.affiliation: Department of Growth and Reproduction GR, Rigshospitalet, Copenhagen, Denmark. jmuller@rh.dk
authors.forename: J
authors.initials: J
authors.lastname: Müller
authors.forename: E M
authors.initials: EM
authors.lastname: Ritzén
authors.forename: S A
authors.initials: SA
authors.lastname: Ivarsson
authors.forename: E
authors.initials: E
authors.lastname: Rajpert-De Meyts
authors.forename: E
authors.initials: E
authors.lastname: Norjavaara
authors.forename: N E
authors.initials: NE
authors.lastname: Skakkebaek
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002278:Carcinoma in Situ / Q000235:genetics / Q000473:pathology; D002648:Child; D003456:Cryptorchidism / Q000235:genetics / Q000473:pathology; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012708:Sertoli Cells / Q000473:pathology; D013736:Testicular Neoplasms / Q000235:genetics / Q000473:pathology