title: Incidence of intratubular germ cell neoplasia in androgen insensitivity syndrome.
abstract: Gonadal histology was investigated by means of conventional microscopy in 6 patients with complete androgen insensitivity syndrome, in 11 with incomplete androgen insensitivity syndrome, and in 3 with 5 alpha-reductase syndrome. Twelve subjects were prepubertal and 8 pubertal. In all patients gonadal tissue was removed as a prophylactic measure and no patients gave rise to any clinical suspicion of a tumour. Eight patients with incomplete androgen insensitivity syndrome, 5 of whom (62.5%) were prepubertal, showed intratubular germ cell neoplasia and in 6 of them it was bilateral. Histochemical and immunohistochemical analysis showed considerable agreement between atypical morphological aspects and positive response to Schiff's periodic acid and to staining with the anti-placenta alkaline phosphatase antibody. Our patients were characterized by one of the highest reported incidences of intratubular germ cell neoplasia, particularly at prepubertal age. These findings would seem to indicate that a rethink is needed concerning the general opinion that patients with androgen intensivity syndrome have practically no risk of developing malignancy, and that orchidectomy is not advisable before puberty is completed.
authors.affiliation: Department of Pediatrics, University of Bologna, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Cassio
authors.forename: E
authors.initials: E
authors.lastname: Cacciari
authors.forename: A
authors.initials: A
authors.lastname: D'Errico
authors.forename: A
authors.initials: A
authors.lastname: Balsamo
authors.forename: F W
authors.initials: FW
authors.lastname: Grigioni
authors.forename: M G
authors.initials: MG
authors.lastname: Pascucci
authors.forename: F
authors.initials: F
authors.lastname: Bacci
authors.forename: M
authors.initials: M
authors.lastname: Tacconi
authors.forename: A M
authors.initials: AM
authors.lastname: Mancini
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency; D000293:Adolescent; D000728:Androgens / Q000502:physiology*; D002648:Child; D002675:Child, Preschool; D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood / Q000150:complications* / Q000473:pathology; D006801:Humans; D007223:Infant; D007985:Leydig Cells / Q000473:pathology; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000150:complications* / Q000473:pathology; D012671:Seminiferous Tubules / Q000473:pathology; D012708:Sertoli Cells / Q000473:pathology; D013577:Syndrome; D013736:Testicular Neoplasms / Q000150:complications* / Q000473:pathology; D013739:Testosterone / Q000097:blood
chemical_list: D000728:Androgens; D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone; D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase