A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome

Momal T. Chand, Stefanie Turner, Leigh Ann Solomon, Allison Jay, Raja Rabah, Vinod K. Misra

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8 Scopus citations


Background: Swyer syndrome is a difference of sex development that is typically associated with mutations in genes responsible for testicular development. It is speculated that some cases may result from cryptic 45,X/46,XY mosaicism leading to abnormal gonadal development. The presence or absence of a 45,X lineage is important for prognosis and management. Case: We present a case of apparent Swyer syndrome associated with a 46,XY chromosomal complement in lymphocytes and 45,X/46,XY mosaicism on analysis of her noncancerous gonad. Gonadal histology was consistent with a 45,X phenotype. Summary and Conclusion: This case demonstrates the clinical variability in the presentation of 45,X/46,XY mosaicism and highlights the importance of thorough genetic testing that includes consideration of chromosomal mosaicism. We will discuss the implications of this diagnosis for management.

Original languageEnglish
Pages (from-to)577-580
Number of pages4
JournalJournal of Pediatric and Adolescent Gynecology
Issue number5
StatePublished - Oct 2020
Externally publishedYes


  • Difference of sex development
  • Gonadal dysgenesis
  • Gonadoblastoma
  • Mosaicism
  • Swyer syndrome


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