XY females: revisiting the diagnosis

To investigate the accuracy of assigned diagnosis in XY female intersex conditions.

Cross sectional hospital case notes review.

Tertiary hospital multidisciplinary intersex clinic.

Forty-six adult intersex women with a complete or mosaic XY karyotype.

All clinical features and investigation results were reviewed and a diagnosis was assigned. This was compared to the original diagnosis assigned.

Data collected included presentation, all investigations, subsequent clinical course and all treatments (medical and surgical). These data were employed to assign an up-to-date intersex diagnosis, which was compared with the recorded diagnosis in the hospital case notes. Diagnoses were then rated according to level of accuracy.

The 47.8% patients had an accurate diagnosis, 32.6% of diagnoses were inaccurate and currently under review, 13% had a wrong diagnosis and 6.5% remain with an unknown aetiology for their XY intersex condition.

Diagnostic accuracy is assumed to be high when evaluating published work on these conditions; however, this study shows 52.1% of patients have unknown, inaccurate or wrong diagnoses. Assigning the wrong diagnosis may be harmful, for example, if it leads to irreversible virilising changes or development of a gonadal malignancy, and for all cases excludes accurate condition management and genetic counselling for both the patient and their immediate family.