Gonadoblastoma in Turner syndrome and Y-chromosome-derived material.

Abstract

The identification of Y-chromosome material is important in females with Ullrich-Turner syndrome (UTS) due to the risk of developing gonadoblastoma or other gonadal tumors. There is controversy regarding the frequency of the Y-chromosome-derived material and the occurrence of gonadoblastoma in these patients. The aim of our study was to evaluate a large number of patients with UTS, followed before and during the pubertal age for the prevalence of Y-chromosome derived material, the occurrence of gonadoblastoma, and the incidence of possible neoplastic degeneration. An unselected series of 171 patients with UTS (1-34 years old), diagnosed cytogenetically, was studied for Y-chromosome markers (SRY and Y-centromeric DYZ3 repeats). The follow-up was of 2-22 years; 101 of these patients were followed during pubertal age. Y-chromosome material was found in 14 patients (8%): 12 of these were gonadectomized (2.8-25.9 years). A gonadoblastoma was detected in four patients under 16 years of age: in two, Y-material was detected only at molecular analysis (at conventional cytogenetic analysis, one was included in the 45,X group and one in the X + mar group) and one had also an immature teratoma and an endodermal sinus carcinoma. The prevalence of gonadoblastoma in our series of gonadectomized UTS patients with Y-positive material was of 33.3% (4/12). Our data suggest that the age of appearance and the possibility of malignant degeneration of gonadoblastoma can occur early in life. These patients, in particular those with 45,X or a marker chromosome may benefit from molecular screening to detect the presence of Y-chromosome material; PCR is a rapid and inexpensive technique. At the moment, laparoscopy and preventive gonadectomy performed as soon as possible remain the procedures of choice for patients with UTS, when Y-chromosome has been identified, as we are still unable to predict a future malignant evolution of gonadoblastoma.

• Authors: Laura Mazzanti, Alessandro Cicognani, Lilia Baldazzi, Rosalba Bergamaschi, Emanuela Scarano, Simona Strocchi, Annalisa Nicoletti, Francesca Mencarelli, Mariacarla Pittalis, Antonino Forabosco, Emanuele Cacciari
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 135 Issue 2 Pg. 150-4 (Jun 01 2005) ISSN: 1552-4825 [Print] United States
• PMID: 15880570 (Publication Type: Journal Article)
• Copyright: Copyright (c) 2005 Wiley-Liss, Inc.

Chemical References

• Genetic Markers

Topics

• Adolescent
• Adult
• Analysis of Variance
• Centromere (genetics)
• Chi-Square Distribution
• Child
• Child, Preschool
• Chromosomes, Human, Y (genetics)
• Female
• Genes, sry (genetics)
• Genetic Markers (genetics)
• Gonadoblastoma (complications, diagnosis, surgery)
• Humans
• In Situ Hybridization, Fluorescence
• Infant
• Karyotyping
• Linear Models
• Ovarian Neoplasms (complications, diagnosis, surgery)
• Repetitive Sequences, Nucleic Acid (genetics)
• Turner Syndrome (complications, genetics)