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.
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.
Authors: Caroline E Brain; Sarah M Creighton; Imran Mushtaq; Polly A Carmichael; Angela Barnicoat; John W Honour; Victor Larcher; John C Achermann Journal: Best Pract Res Clin Endocrinol Metab Date: 2010-04 Impact factor: 4.690
Authors: Jennifer K Y Ko; Thomas F J King; Louise Williams; Sarah M Creighton; Gerard S Conway Journal: Endocr Connect Date: 2017-06-14 Impact factor: 3.335
Authors: Federica Buonocore; Oliver Clifford-Mobley; Tom F J King; Niccolò Striglioni; Elim Man; Jenifer P Suntharalingham; Ignacio Del Valle; Lin Lin; Carlos F Lagos; Gill Rumsby; Gerard S Conway; John C Achermann Journal: J Endocr Soc Date: 2019-10-10