45, X, 46, XY gonadal dysgenesis (Q84783): Difference between revisions

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Latest revision as of 10:08, 15 August 2026

45,X/46,XY mixed gonadal dysgenesis is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. Prevalence is unknown. The clinical manifestations are highly variable, ranging from partial virilization and ambiguous genitalia at birth to patients with a completely male or female phenotype.

Language	Label	Description	Also known as
default for all languages	ID_451241641
English	45, X, 46, XY gonadal dysgenesis	45,X/46,XY mixed gonadal dysgenesis is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. Prevalence is unknown. The clinical manifestations are highly variable, ranging from partial virilization and ambiguous genitalia at birth to patients with a completely male or female phenotype.