Turner syndrome: II. Associated anomalies, mental performance and psychological problems in 218 patients diagnosed in Leuven in the period 1965-1989

Selected medical and psychosocial problems in 218 Turner syndrome patients diagnosed at the Leuven Centre for Human Genetics are reported here. Special attention is paid to the associated congenital malformations, the mental performance and the occurrence of psychosocial and/or characterological difficulties. Mental underdevelopment was documented in 50 patients (22.9 per cent) and psychosocial and/or characterological problems in a total of 44 patients (20.2 per cent). This study confirms that in patients with Turner syndrome diagnosis special attention should be drawn to the mental development and psychosocial problems.     

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.