Details

Autor(en) / Beteiligte

• Horn, L-C
• Limbach, A
• Hoepffner, W
• Tröbs, R B
• Keller, E
• Froster, U-G
• Richter, C E
• Jakubiczka, S

Titel

Histologic analysis of gonadal tissue in patients with Ullrich-Turner syndrome and derivative Y chromosomes

Ist Teil von

• Pediatric and developmental pathology, 2005-03, Vol.8 (2), p.197-203

Ort / Verlag

United States

Erscheinungsjahr

2005

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.