Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors

Martine Cools, Leendert H J Looijenga, Katja P Wolffenbuttel, Sten L S Drop

Research output: Contribution to journalReview articlepeer-review

56 Citations (Scopus)


BACKGROUND: 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.

DATA SOURCES: The information obtained in this review is based on recent original publications and on the experience of our multidisciplinary clinical and research group.

RESULTS: 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.

CONCLUSIONS: 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.

Original languageEnglish
Pages (from-to)93-102
Number of pages10
JournalWorld journal of pediatrics : WJP
Issue number2
Publication statusPublished - May 2009
Externally publishedYes


  • Consensus Development Conferences as Topic
  • Disorders of Sex Development/classification
  • Evidence-Based Medicine
  • Gene Expression Profiling
  • Genetic Markers/genetics
  • Gonadal Dysgenesis/genetics
  • Humans
  • Mutation
  • Neoplasms, Germ Cell and Embryonal/genetics
  • Phenotype
  • Risk Assessment
  • Risk Factors
  • Sex Chromosomes/genetics
  • Sexual Development/genetics


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