46, XY Pure Gonadal Dysgenesis and Tumoral Risk

Abstract

Purpose Gonadal dysgenesis corresponds to an impaired development of the gonad. One of its major characteristic is its high propensity to malignancy. This study presented the cases of 46, XY pure gonadal dysgenesis (GD) managed in our center over an 18 years period. Material and Methods The charts of 10 patients treated for 46, XY pure GD (non ambiguous female phenotype) were reviewed. Results The diagnosis circumstances were: Gonadal tumour (2 girls): dysgerminomas. In the first case (7 years old), the diagnosis of GD was made post operatively. For the other case (17 years old), this diagnosis was suspected on the association of tumour with slight pubertal development and low HCG blood level. A preoperative karyotype confirmed the diagnosis. Genetic familial investigations in these 2 families led to diagnose 4 additional cases of affected children. Amenorrhea (2 patients, aged 15 and 23 years) Clitoromegaly (1 patient, neonate) Campomelic dysplasia (1 patient, 4 years) Thus, bilateral gonadectomy was performed for therapeutic reasons in the 2 cases of dysgerminomas. In the remaining 8 patients, gonadectomy was performed for prophylactic reasons (median age 7.25 years, range 0-23) but revealed 5 gonadoblastomas with an associated dysgerminoma in one case (11 years old). Of note, the 23 year-old patient seen for amenorrhea had breast and pubic hair development related to hormonal tumoral secretion. Conclusions A gonadal tumour arising in girl with pubertal delay may be related to the dysgenesis of this gonad. The diagnosis of germ cell tumour in girls with low HCG level is likely to be a dysgerminoma.The diagnosis of dysgerminomas should warrant karyotype study and familial screening if 46, XY pure GD is confirmed and should drive to early removal of the gonads.