Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.
To stress the importance of gonadal dysgenesis in the genesis of gonadoblastoma in the presence of the Y-chromosome, the authors report their experience on 7 patients with 46, XY Pure Gonadal Dysgenesis (PGD) and 14 patients with complete or incomplete forms of Testicular Feminization (TF) syndrome. The diagnostic criteria and the clinical and pathological findings are reviewed. Four patients with PGD were found to be affected by bilateral (1 patient) or unilateral (1 patient) gonadoblastomas, and by extragonadal (1 patient) or gonadal (1 patient) dysgerminoma, whereas no gonadal tumors were encountered in testes of patients with complete (CTF) or incomplete (ITF) forms of TF, underlining the pathogenic role of the gonadal dysgenesis.
Lukusa
T
T
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Kleczkowska
A
A
Van den Berghe
H
H
D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004407:Dysgerminoma / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012741:Sexual Maturation; D013736:Testicular Neoplasms / Q000175:diagnosis / Q000235:genetics*