" /> 45, X, 46, XY gonadal dysgenesis - CISMeF





Preferred Label : 45, X, 46, XY gonadal dysgenesis;

ICD-11 definition : 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.;

ICD-11 synonym : Mixed gonadal dysgenesis;

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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.

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02/06/2025


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