DEV-GEN-RiTuGo - Assessment of Individual Gonadal Tumor Risk in Patients With Disorders of Sexual Developpment According to the Etiology.
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Disorders of Sexual Development
- Sponsor
- Hospices Civils de Lyon
- Enrollment
- 80
- Locations
- 1
- Primary Endpoint
- Presence or absence of gonadal tumor lesion after gonadectomy, in case of Disorders of sexual development (DSD) according to anatomo-pathological analysis.
- Status
- Completed
- Last Updated
- last year
Overview
Brief Summary
Disorders of Sexual Development are rare and represent a spectrum of heterogeneous pathologies. The risk of developing a malignant gonadal germ cell tumor (MGCT) exists and varies according to the etiology.
The indication for prophylactic gonadectomy must be modulated and discussed for all patients. It is essential to assess each patient's individual risk.
The aim of our study is to assess gonadal tumor risk in patients with Disorders of Sexual Development according to etiology
The primary objective is to evaluate tumor risk and the indication for gonadectomy in cases of Disorders of Sexual Development according to etiology.
The secondary objectives are to evaluate the timing of gonadectomy, to monitor changes in practice over time, and to assess the contribution of imaging and/or biological tests to tumor detection.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Patients who underwent gonadectomy for variation in genital development between 1990 and
- •Pathological anatomy examination in Lyon
- •With clinical data
- •With karyotype
- •3 categories:
- •with genetic diagnosis
- •without genetic diagnosis because searched but not found
- •without genetic diagnosis because not searched
Exclusion Criteria
- •Biopsies without gonadectomy
- •Operated outside the period 1990-2022
- •Lack of clinical data
- •No karyotype
Outcomes
Primary Outcomes
Presence or absence of gonadal tumor lesion after gonadectomy, in case of Disorders of sexual development (DSD) according to anatomo-pathological analysis.
Time Frame: The outcome measure will be assessed and the datas reported for each patient will be collected, from birth until the study completion date, or by default until the date of death from any cause. Datas will be collected during the 10 months of the study
Datas about the gonadectomy surgical pieces performed between1990 and 2022 are reviewed for the study by Dr Frédérique Dijoud, anatomo-pathologist at the DEV-GEN CRMR in Lyon, to confirm the présence or absence of a gonadal tumor lesion, in order to avoid intra- and inter-reader interpretation bias.