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[Atypical genital development and tumor risk]
Cécile Faure Conter1, Daniela Brindusa Gorduza2, Pierre-Yves Mure2
1Institut d'hématologie et d'oncologie pédiatrique, IHOPe, 69008 Lyon, France.
Bulletin Du Cancer
|March 27, 2019
Summary
Atypical genital development (AGD), or disorders of sex development, involves genital abnormalities. Certain AGD types increase tumor risk, necessitating individualized patient monitoring and treatment strategies.
Area of Science:
- Endocrinology
- Genetics
- Pediatric Surgery
Background:
- Atypical genital development (AGD), also known as disorders of sex development (DSD), encompasses diverse pathologies affecting internal and/or external genital organs.
- The Chicago classification categorizes DSD into three main groups based on karyotype, hormone balance, and genetic factors.
Purpose of the Study:
- To review the tumor risk associated with various types of AGD.
- To highlight the importance of individualized patient management based on specific risk factors.
Main Methods:
- Review of existing literature and classification systems for AGD.
- Analysis of factors influencing tumor development in patients with AGD.
- Discussion of diagnostic and management strategies, including prophylactic gonadectomies.
Main Results:
- Some AGD conditions elevate the risk of developing tumors, primarily malignant germ cell tumors.
- Tumor risk is multifactorial, influenced by AGD type, gonad position, patient age, phenotype, gonad function, and germ cell presence.
- Gonadal dysgenesis, characterized by incomplete gonad differentiation, presents the highest tumor risk.
Conclusions:
- Patient monitoring and decisions regarding prophylactic gonadectomies for AGD should be tailored to individual tumor risk profiles.
- Early identification and risk stratification are crucial for optimal management of patients with AGD.
- Further research into specific AGD subtypes and their associated oncological risks is warranted.
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