Wu Dehua,Tian Hongjuan,Tang Daxing,et al.Preliminary study on gender assignments and related predictors of androgen insensitivity syndrome with AR gene mutation[J].Journal of Clinical Pediatric Surgery,,18():387-394.[doi:10.3969/j.issn.1671-6353.2019.05.010]
Preliminary study on gender assignments and related predictors of androgen insensitivity syndrome with AR gene mutation
- Keywords:
- Androgen-Insensitivity Syndrome/DI; Androgen-Insensitivity Syndrome/TH; Forecasting/MT; Prognosis
- CLC:
- R726.9;R393;R588
- Abstract:
- Objective To explore the gender assignments of androgen insensitivity syndrome (AIS) patients and analyze the role of predictors related to clinical outcomes after puberty and external genital development in gender assignments. Methods Methods From November 2015 to October 2018,a total of 21 AIS inpatients with androgen receptor (AR) gene mutation were retrospectively analyzed.The average age was 49.7 (3-161) months.The primary diagnosis was female (n=14) and male (n=7).Their phenotypes varied with different severity of external undermasculinisation.There were complete feminization (n=8),ambiguous external genitalia (n=10) and micropenis (n=3).Based on molecular diagnostics,external masculinisation score (EMS),psychological evaluations and reaction of external genitalia to androgen stimulation were used as the predictors for clinical outcomes after puberty and external genital development,considering sociocultural factors,gonadal characteristics and opinions from parents or children.Our multidisciplinary team (MDT) made final gender assignments. Results Eight cases (38.1%) were diagnosed as complete androgen insensitivity syndrome (CAIS) with Prader stage 0,EMS 1-2,female dominant and no response to androgen treatment of external genitalia.Ten cases (42.9%) were diagnosed as PAIS with Prader stageⅠ-Ⅲ and EMS 2-9 according to their sex role inventory.One case presented to be female dominant while another 8 cases were male dominant and their penises grew up significantly after androgen treatment,whose gender assignments came out to be male.All 3 micropenile cases (14%) were evaluated as male dominant by psychosexual assessment.After androgen treatment,their penises expanded markedly and all gender assignments were male.Prader stage and EMS of patients assigned male were both higher than female’s,the difference was statistically significant (P<0.05) and gender assignments are related with the efficacy of androgen therapy and psychosexual assessment. Conclusion Comprehensive analysis of AR gene mutations,EMS score,psychosexual assessments and response of genitals to androgen treatment may help to predict the clinical outcome,gender identity and external genital development after puberty.Meanwhile,fully considering the sociocultural factors and the viewpoint of children with parents or children,is a quite reliable method for MDT to make decision in gender assignment for AIS patients at present.
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Memo
收稿日期:2019-02-02。
基金项目:国家重点研发计划"开展出生缺陷综合防治技术的应用示范和评价研究"（编号2018YFC002700）
通讯作者:唐达星,Email:tangdx0206@zju.edu.cn