46,XX testicular difference of sex development

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Synonyms: 46,XX testicular DSD | 46,XX testicular disorder of sex development | De la Chapelle syndrome | XX, male syndrome

A rare difference of sex development (DSD) associated with a 46 XX karyotype and characterized by male external genitalia ranging from normal to atypical with associated testosterone deficiency.

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 June 2024

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46,XX testicular difference of sex development?

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