title: Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes.
abstract: To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.
authors.affiliation: Institute of Pathology, Division of Perinatal and Gynecologic Pathology, University of Leipzig, Liebigstrasse 26, Leipzig D-04103, Germany. hornl@medizin.uni-leipzig.de
authors.forename: L-C
authors.initials: LC
authors.lastname: Horn
authors.forename: A
authors.initials: A
authors.lastname: Limbach
authors.forename: W
authors.initials: W
authors.lastname: Hoepffner
authors.forename: R B
authors.initials: RB
authors.lastname: Tröbs
authors.forename: E
authors.initials: E
authors.lastname: Keller
authors.forename: U-G
authors.initials: UG
authors.lastname: Froster
authors.forename: C E
authors.initials: CE
authors.lastname: Richter
authors.forename: S
authors.initials: S
authors.lastname: Jakubiczka
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D010052:Ovariectomy; D010053:Ovary / Q000473:pathology* / Q000601:surgery; D016133:Polymerase Chain Reaction; D014424:Turner Syndrome / Q000235:genetics* / Q000473:pathology* / Q000601:surgery
chemical_list: D005819:Genetic Markers; D004247:DNA