Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors
- Martine CoolsAffiliated withDepartment of Pediatrics, Division of Pediatric Endocrinology, University Hospital Gent Email author
- , Leendert H. J. LooijengaAffiliated withDepartment of Pathology, Erasmus Medical Center, Josephine Nefkens Institute, Daniel Den Hoed Cancer Clinic
- , Katja P. WolffenbuttelAffiliated withDepartment of Urology, Sofia Children’s Hospital
- , Sten L. S. DropAffiliated withDepartment of Pediatrics, Sofia Children’s Hospital
Rent the article at a discountRent now
* Final gross prices may vary according to local VAT.Get Access
Considerable progress has been made on genetic mechanisms involved in disorders of sex development and on tumor formation in dysgenetic gonads. Clinical and psychological outcome of patients are, as far as evaluated, unsatisfactory at present. Guidelines are emerging in order to optimize long-term outcome in the future.
The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.
This review offers an update on our knowledge concerning gene mutations involving in disorders of sex development, on the renewed nomenclature and classification system, and on the mechanisms of tumor development in patients.
The consensus meeting on disorders of sex development has renewed our interest in clinical studies and long-term outcome of patients. Psychological research emphasizes the importance to consider male gender identity wherever possible in cases of severe undervirilization. Patient advocacy groups demand a more conservative approach regarding gonadectomy. Medical doctors, scientists and governmental instances are increasingly interested in the set-up of international research collaborations. As a consequence, it is expected that new guidelines for the optimal care of patients will be proposed in the coming years.
Key wordsconsensus germ cell tumor nomenclature risk sex development
- Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors
World Journal of Pediatrics
Volume 5, Issue 2 , pp 93-102
- Cover Date
- Print ISSN
- Online ISSN
- SP Children’s Hospital, Zhejiang University School of Medicine
- Additional Links
- germ cell tumor
- sex development
- Author Affiliations
- 1. Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Gent, De Pintelaan 185, 9000, Gent, Belgium
- 2. Department of Pathology, Erasmus Medical Center, Josephine Nefkens Institute, Daniel Den Hoed Cancer Clinic, Postbus 2040, 3000 DR, Rotterdam, The Netherlands
- 3. Department of Urology, Sofia Children’s Hospital, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands
- 4. Department of Pediatrics, Sofia Children’s Hospital, Dr Molewaterplein 60, 3015 GJ, Rotterdam, The Netherlands