A Case of 45,X/46,XY Mosaicism Presenting as Swyer Syndrome - 24/09/20
Abstract |
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.
Le texte complet de cet article est disponible en PDF.Key Words : Difference of sex development, Swyer syndrome, Mosaicism, Gonadal dysgenesis, Gonadoblastoma
Plan
| The authors indicate no conflicts of interest. |
Vol 33 - N° 5
P. 577-580 - octobre 2020 Retour au numéro
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