Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.
Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier syndrome and one with Denys-Drash syndrome. In six cases the patients had bilateral gonadectomy. In five cases gonadectomia was performed at the moment of primary detection of disorders of sex development. (0.4; 1; 2.7; 14; 16 years). One patient hade gonadectomy a bit later at teenage age (17 years) due to the high risk of gonadal tumour.
Results: Pathologic examination revealed gonadal tumours in two (33%) of six patients. All patients with gonadal tumours had an unambiguous female phenotype. Thats why the diagnosis was made only at teenage age and therefore operation was also performed only at teenage age. (14, 16 years). In one case was revealed gonadoblastoma and in other was Sertoli-Leydig cell tumour.
Conclusion: In our study of disorders of sex development with 46,XY gonadal disgenesis the risk of gonadal tumour was high. Patients with a total gonadal dysgenesis 46,XY had the highest risk of tumours of gonads. The maximum risk of a tumours of a gonads arised at teenage age. Therefore gonadectomy should be considered soon after the diagnosis of 46,XY gonadal dysgenesis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology