Pure XY gonadal dysgenesis and agenesis in monozygotic twins

Hui Yu Chen, Hong Yuan Huang*, Ting Chang Chang, Chyong Huey Lai, Yung Kuei Soong

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

3 Scopus citations


Objective: To report a case of monozygotic twin sisters who had discordant gonadal dysgenesis although each had a normal 46,XY karyotype. Design: Case report. Setting: University tertiary hospital. Patient(s): Seventeen-year-old twin sisters, one with gonadal agenesis and the other with pure gonadal dysgenesis followed by dysgerminoma. Intervention(s): Blood samples were obtained for karyotyping and short tandem repeat polymorphism analysis (10 markers). Both patients underwent gonadectomy. Main Outcome Measure(s): Both sisters are well at time of report after gonadectomy for the sister with dysgerminoma and diagnostic laparoscope for the other. Result(s): Dysgerminoma and atrophic ovarian stromal and tubal structures. Conclusion(s): Monozygotic twins can have discordant gonadal dysgenesis even though they are identical genetically.

Original languageEnglish
Pages (from-to)1059.e9-1059.e11
JournalFertility and Sterility
Issue number4
StatePublished - 04 2006
Externally publishedYes


  • Amenorrhea
  • Monozygotic twin
  • Pure gonadal dysgenesis


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