ANDROGEN INSENSITIVITY SYNDROME - A SURVEY OF DIAGNOSTIC PROCEDURES AND MANAGEMENT IN THE UK

Objective-A two year survey of androgen insensitivity syndrome (AIS) t o assess current diagnostic and management strategies. Methods-Cases w ere ascertained by inclusion on the British Paediatric Surveillance Un it monthly report card for 24 months. Results-Fifty one of 139 notific ations were confirmed as AIS; 29 cases were complete AIS and 22 cases partial AIS. Seventy six per cent of complete AIS presented with an in guinal hernia, and half the complete AIS patients had an established f amily history of the disorder. Presentation in the partial AIS group w as through ambiguous or undermasculinised genitalia; 59% of partial AI S were raised as male. Conclusions-The importance of karyotyping girls with inguinal hernias is confirmed, and further attention should be g iven to genetic counselling for families of complete AIS patients. A l arge number of cases were misreported as partial AIS, emphasising the importance of undertaking a comprehensive diagnostic evaluation in int ersex states. A large percentage of children with partial AIS were rai sed as boys despite severe genital undermasculinisation, indicating th e current lack of validated measures that predict genital response to androgen treatment. The management of AIS is discussed and diagnostic guidelines provided to improve the diagnostic yield in AIS.