Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management

K P Wolffenbuttel, R Hersmus, H Stoop, K Biermann, P Hoebeke, M Cools, L H J Looijenga

Research output: Contribution to journalReview articlepeer-review

53 Citations (Scopus)


Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46,XY DSD and 45,X/46,XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads.

Original languageEnglish
Pages (from-to)411-416
Number of pages6
JournalJournal of pediatric urology
Issue number6
Publication statusPublished - Dec 2016
Externally publishedYes


  • Child
  • Decision Trees
  • Female
  • Gonadal Dysgenesis/diagnosis
  • Humans
  • Male
  • Urologic Surgical Procedures/methods


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