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,2019,18(05):387-394.[doi:10.3969/j.issn.1671-6353.2019.05.010]
AR基因突变雄激素不敏感综合征相关因素在性别分配中的作用分析
- Title:
- Preliminary study on gender assignments and related predictors of androgen insensitivity syndrome with AR gene mutation
- 关键词:
- 雄激素迟钝综合征/诊断; 雄激素迟钝综合征/治疗; 预测/方法; 预后
- Keywords:
- Androgen-Insensitivity Syndrome/DI; Androgen-Insensitivity Syndrome/TH; Forecasting/MT; Prognosis
- 分类号:
- R726.9;R393;R588
- 摘要:
- 目的 分析与青春期后AR基因突变雄激素不敏感综合征患儿的临床结局及外生殖器发育相关因素在性别分配中的作用，探讨AR基因突变雄激素不敏感综合症的最佳性别分配方案。方法 以2015年11月至2018年10月浙江大学医学院附属儿童医院收治的21例出现AR基因突变的雄激素不敏感综合征（androgen insensitivity syndrome，AIS）患儿为研究对象，年龄3个月至13岁5个月，中位数为49.7个月。初诊性别女14例，男7例。外生殖器均表现为不同程度的雄性化不全，其中8例表型为完全女性化、10例为外生殖器模糊、3例为小阴茎。在分子诊断结果的基础上，将外生殖器雄性化评分（external masculinisation score，EMS）、性心理评估结果、外生殖器对雄激素刺激反应情况作为青春期后临床结局和外生殖器发育程度的预测因素，结合社会文化因素、性腺发育特点、患儿及其父母主观层面认知等因素，由本院多学科团队（multidisciplinary team，MDT）作出性别分配。结果 8例（38.1%）诊断为完全性雄激素不敏感综合征（complete androgen insensitivity syndrome，CAIS）患儿的Prader评分均为0分，EMS评分为1~2分，性心理量表评估结果均表现为女性优势，雄激素治疗外生殖器无明显反应，性别分配均为女性。10例（42.9%） Prader评分为1~3分的部分性雄激素不敏感综合征（partial androgen insensitivity syndrome，PAIS）患儿EMS评分为2~9分，性心理量表评估结果除1例表现为女性优势外，其余均表现为男性优势，雄激素治疗后阴茎增长明显，性别分配均为男性。3例（14%）小阴茎患儿性心理量表评估结果均表现为男性优势，雄激素治疗后阴茎明显增长，性别分配均为男性。男性性别分配者的Prader评分和EMS评分高于女性性别分配者，且差异有统计学意义（P<0.05），雄激素治疗有效性、性心理评估结果与性别分配结果间均具有良好的关联性（P<0.05）。结论 分析AR基因突变情况、EMS评分、性心理评估结果和外生殖器雄激素治疗反应结局等因素对AIS患儿未来性别认同、外生殖器发育程度等青春期后临床结局进行预测具有一定的可行性，在充分考虑社会文化因素、患儿及其父母主观层面认知情况下，由MDT进行性别分配是目前较为适宜的AIS性别分配方法。
- 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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备注/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