Disorders of Sexual Development and Gonadal Tumor Risk (DEV-GEN-RiTuGo)

Civil Hospices of Lyon

Status: Completed

Conditions: Disorders of Sexual Development

Treatments: Other: Not applicable . Non-interventional retrospective study, only on datas.

Study type: Observational

Funder types: Other

Identifiers

NCT06682078

23-5235 (Registry Identifier)

69HCL23_0858

Details and patient eligibility

About

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.

Enrollment: 80 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients who underwent gonadectomy for variation in genital development between 1990 and 2022.

• 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
• Fetus
• Operated outside the period 1990-2022
• Lack of clinical data
• No karyotype