Disorders of Sexual Development
Conditions
Keywords
surgery, pediatrics, Urology, Endocrinology, Gonadoblastoma, Dysgerminoma, neoplasms, gonadal tissue, sexual development, oncology, gonadal dysgenesis, androgen-insensitivity syndrome, testicular regression syndrome, anti-mullerian hormone
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.
Interventions
OTHERNot applicable . Non-interventional retrospective study, only on datas.
Not applicable . Non-interventional retrospective study, only on datas.
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Presence or absence of gonadal tumor lesion after gonadectomy, in case of Disorders of sexual development (DSD) according to anatomo-pathological analysis. | 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. |
Countries
France
Outcome results
None listed