Catalog

45, X, 46, XY gonadal dysgenesis

No MMS code

Link to WHO Definition

45, X, 46, XY gonadal dysgenesis – http://id.who.int/icd/entity/451241641

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.