Background: Pure gonadal dysgenesis 46 XY is a rare form of sexual differentiation disorders.
Objective and hypotheses: This study describes the diagnosis circumstances, clinical, biological and radiological presentation, and genetic aetiology of 14 patients with a 46 XY pure gonadal dysgenesis.
Method: It is a retrospective descriptive multicenter study from Necker Hospital (Paris) and Lille university hospitals.
Results: The patients were diagnosed between prenatal period and 21 years, the median age of diagnosis was 16. Nine of the 14 patients had primary amenorrhea, leading to the late diagnosis. Six of the nine patients aged 10 years and older had already breast development, without any functional gonad; all of these patients had gonadal tumor, gonadoblastoma and/or dysgerminoma. One patient was diagnosed because of abdominal pain due to a tumoral syndrome. Eight of the 13 operated patients (61%) had a gonadal tumor (two gonadoblastoma and six dysgerminoma). Six of the eight gonadal tumor (75%) were malignant, all of those patients were asymptomatic. The median age of tumors diagnosis was 15 years, and the youngest patient was 2 years 11 months old. Mutation or deletion was found for 5/10 patients, 3/10 (30%) in the coding sequence of the SRY gene, one in the SF1 gene, and one deletion including DMRT1 and DMRT2 genes in the chromosome 9.
Conclusion: Sixty-one percent of the operated patients had gonadal tumor (gonadoblastoma or dysgerminoma), which is more than literature data. Breast development, even normal appearance, is often due to a tumoral hormonal secretion. We should not delay ablation of the gonads in patients with 46 XY pure gonadal dysgenesis. All primary amenorrhea have to be investigated, and a caryotype must be done, even if it seems isolated with a late Tanner stage.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology