Viner R M, Teoh Y, Williams D M, Patterson M N, Hughes I A
Department of Paediatrics, University of Cambridge, Addenbrookes Hospital.
Arch Dis Child. 1997 Oct;77(4):305-9. doi: 10.1136/adc.77.4.305.
A two year survey of androgen insensitivity syndrome (AIS) to assess current diagnostic and management strategies.
Cases were ascertained by inclusion on the British Paediatric Surveillance Unit monthly report card for 24 months.
Fifty one of 139 notifications were confirmed as AIS; 29 cases were complete AIS and 22 cases partial AIS. Seventy six per cent of complete AIS presented with an inguinal hernia, and half the complete AIS patients had an established family history of the disorder. Presentation in the partial AIS group was through ambiguous or undermasculinised genitalia; 59% of partial AIS were raised as male.
The importance of karyotyping girls with inguinal hernias is confirmed, and further attention should be given to genetic counselling for families of complete AIS patients. A large number of cases were misreported as partial AIS, emphasising the importance of undertaking a comprehensive diagnostic evaluation in intersex states. A large percentage of children with partial AIS were raised as boys despite severe genital undermasculinisation, indicating the 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.
对雄激素不敏感综合征（AIS）进行为期两年的调查，以评估当前的诊断和管理策略。
通过纳入英国儿科监测单位24个月的月度报告卡来确定病例。
139例报告中有51例被确诊为AIS；29例为完全性AIS，22例为部分性AIS。76%的完全性AIS表现为腹股沟疝，半数完全性AIS患者有该疾病的家族史。部分性AIS组的表现为生殖器模糊或男性化不足；59%的部分性AIS患者按男性抚养。
证实了对患有腹股沟疝的女孩进行核型分析的重要性，应进一步关注为完全性AIS患者的家庭提供遗传咨询。大量病例被误报为部分性AIS，强调了在两性畸形状态下进行全面诊断评估的重要性。尽管生殖器严重男性化不足，但很大比例的部分性AIS儿童按男孩抚养，这表明目前缺乏预测生殖器对雄激素治疗反应的有效措施。讨论了AIS的管理并提供了诊断指南，以提高AIS的诊断率。
