Disorders of Sexual Development and Gonadal Tumor Risk

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.

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Key information

Conditions

Disorders of Sexual Development Androgen-Insensitivity Syndrome Anorchia Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorder of Sex Development, 46,XY Disorders of Sex Development Dysgerminoma Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Germinoma Gonadal Disorders Gonadal Dysgenesis Gonadal Dysgenesis, 46,XY Gonadoblastoma Male Urogenital Diseases Neoplasms Neoplasms by Histologic Type Neoplasms, Germ Cell and Embryonal Neoplasms, Gonadal Tissue Urogenital Abnormalities Urogenital Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Service de Chirurgie uro-viscérale pédiatrique

Bron, 69500, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Other

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

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.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

DEV-GEN-RiTuGo - Assessment of Individual Gonadal Tumor Risk in Patients With Disorders of Sexual Developpment According to the Etiology.

Acronym: DEV-GEN-RiTuGo

Important dates

Study start: 2023
Primary completion: 2023
Study completion: 2024
First posted: Nov 12, 2024
Registry last updated: Apr 13, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed