45, X, 46, XY gonadal dysgenesis (Q84783): Difference between revisions
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Disgenesia gonadal mista 45,X/46,XY é um distúrbio do desenvolvimento sexual (DDS) associado a uma anormalidade numérica do cromossomo sexual resultante de mosaicismo do cromossomo Y e levando a desenvolvimento gonadal anormal. A prevalência é desconhecida. As manifestações clínicas são altamente variáveis, desde virilização parcial e genitália ambígua ao nascimento até pacientes com fenótipo completamente masculino ou feminino. | |||
| description / en | description / en | ||
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. | |||
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 |
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| 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. |
