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Haematological chimerism masquerading as disorder of sex development

46,XY Disorders of Sex Differentiation (DSD) such as complete gonadal dysgenesis, disorders of androgen synthesis and action, ovotesticular DSD can present with unambiguous or minimally virilised female external genitalia. Haematological chimerism, characterized by the presence of cells from at least 2 zygote lineages in the lympho-haemopoietic system only, can potentially be confused with 46,XY DSD.