A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome |
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| Institution: | 1. Department of Pathology, Ascension St John Hospital, Detroit, Michigan;2. Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children''s Hospital of Michigan, Detroit, Michigan;3. Gynecologic Oncology, Ascension St John Hospital, Detroit, Michigan;4. Cancer Genetics Department, Ascension St John Hospital, Detroit, Michigan;5. Department of Pathology, University of Michigan, Ann Arbor, Michigan |
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| Abstract: | BackgroundSwyer 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.CaseWe 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 ConclusionThis 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. |
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| Keywords: | Difference of sex development Swyer syndrome Mosaicism Gonadal dysgenesis Gonadoblastoma |
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