XY females: revisiting the diagnosis.

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

Design: Cross sectional hospital case notes review.

Setting: Tertiary hospital multidisciplinary intersex clinic.

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

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

Main Outcome Measures: 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.

Results: 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.

Conclusions: 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.