46,XY complete gonadal dysgenesis
Synonyms: 46,XY CGD | 46,XY pure gonadal dysgenesis | Swyer syndrome
A rare disorder/difference of sex development (DSD) associated with absence in gonadal development that results in the presence of female appearing external and internal genitalia in presence of a 46,XY karyotype.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
46,XY complete gonadal dysgenesis?
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Advocacy Organizations
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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