Long-term health issues of women with XY karyotype

46XY women is a label that gathers together a number of different conditions for which the natural history in to adult life is still only partially known. A common feature is the difficulty that many women encounter when approaching clinicians. In this review we assemble medical, surgical and psychological literature pertaining adult 46XY women together with our experience gained from an adult DSD clinic. There is increasing awareness for the need for multidisciplinary team involving endocrinologist, gynaecology, nurse specialist and particularly clinical psychologists. Management of adult women with a 46XY karyotype includes several aspects: revising the diagnosis in those with previously incomplete workup; exploring issues of disclosure of details of the diagnosis. Surgery needs to be discussed when the gonads are still in situ and when partial virilisation of genitalia have occurred. To maintain secondary sexual characteristics, for general well being and for bone health, most women require sex steroid replacement continuously until the approximately age of 50 and it is important that the treatment is tailored on individual basis. Women should have access to advice about fertility options involving egg donation and surrogacy.