Objective: To understand the gender selection and prognosis of children with 46, XY disorders of sex development (DSD) after surgery, and to provide reference for future clinical decision-making. Methods: Data of 85 (80 males and 5 females) postoperative patients with 46, XY DSD with follow-up age of 6(4,11) years who were treated at the Department of Endocrinology, Genetics and Metabolism of Beijing Children's Hospital Affiliated to Capital Medical University during the period from September 2009 to April 2018 were retrospectively analyzed. The patients were grouped based on diagnosis. The basis of postoperative gender selection, patient satisfaction and related factors, gender characteristics, and adolescent development were analyzed. The Pre-school Activities Inventory or the Children's Sex Role Inventory were used in the analysis of gender tendency. Mann-Whitney U test was used to compare postoperative gender satisfaction of different factors. The Kruskal-Wallis method was used to compare the postoperative gender satisfaction of each group. Fisher's test was used to compare the follow-up status of male children over 11 years old in each group. Results: Among the 85 patients, 62 individuals were raised as girls after birth, 9 were facultative and 14 as boys. According to the diagnosis, there were 31 individuals in group 1 (with 5α-reductase deficiency), 11 individuals in group 2 (with androgen insensitivity syndrome), 9 individuals in group 3 (with NR5A1 gene mutation), 4 individuals in group 4 (with hypergonadotropic gonadal dysplasia), and 30 indiviudals in group 5 (with unclear diagnosis and normal human choionic gonadotophin test). Among the 71 children who were raised as girls or facultative children after birth, 66 selected as boys, and 5 continued as girls (among them, 3 individuals were female with passive selection, and 2 individuals of testicular dysplasia with uterus in group 4 and 5 were female with active selection). Among the 71 patients faced with gender selection, only one was unsatisfied, that was a postoperative female. There was no significant difference in postoperative gender satisfaction among different disease diagnoses, surgical age and penis length (χ(2)(H)=6.007, P=0.199; Z=-0.860, P=0.390; Z=-0.438, P=0.661). Fifty-nine of the 85 cases completed the gender tendency scale test and 46 cases (78%) were consistent. In the male patients, 45 cases were consistent. Thirteen inconsistent patients (22%) were female or facultative after birth who were 5 years old or older. There was no stigmatization noticed in the inconsistent patients' daily life and school social settings. There were 22 male patients aged 11 years and older. They were 13(12,16) years old. Fourteen (64%) individuals' penile length reached the normal minimum, 15 (68%) individuals' testicular volume were equal or more than 4 ml, 16 (73%) individuals' sex hormones entered puberty levels, 12 (55%) individuals had been spermatorrhea, the age of first spermatorrhea was (13.3±2.4) years. They were satisfied and adaptable after surgery. There was no significant difference in the above indicators among the groups (χ²=2.999, P=0.694; χ²=7.278, P=0.086; χ²=5.597, P=0.358; χ²=6.904, P=0.127). Conclusions: The appropriate gender of 46, XY DSD patients was selected according to gonadal status after diagnosis. Regardless the diagnosis, the age of operation and the length of the penis at the first diagnosis, male patients were satisfied with the gender after the operation. A few of patients were inconsistent with the results of gender tendency scale test who were raised as girls or facultative children after birth, and they required sustained special attention. Some of the children showed natural adolescent development in males, and the prognosis may be ideal.
目的： 了解46,XY性发育异常（DSD）患儿术后性别选择及预后情况，为临床决策提供参考依据。 方法： 对2009年9月至2018年4月于首都医科大学附属北京儿童医院内分泌遗传代谢中心就诊的85例随访年龄6(4,11)岁的46,XY性发育异常术后患儿（男80例，女5例）进行病历资料的回顾性分析及预后随访。按疾病诊断分组，比较术后性别满意度、青春期发育情况。分析患儿术后性别选择依据、满意度及相关因素、性别特征倾向、青春期发育情况。性别倾向分析采用学龄前活动量表或儿童性角色量表。不同因素术后性别满意度比较采用Mann-Whitney U检验；各组术后性别满意度比较采用Kruskal-Wallis方法；≥11岁男性患儿各组随访情况比较采用Fisher检验。 结果： 85例患儿中生后按女性养育62例，兼性9例，男性14例。按诊断分组：组1（5α-还原酶缺乏症）31例，组2（雄激素不敏感综合征）11例，组3（NR5A1基因变异）9例，组4（高促性腺激素性性腺发育不良）4例，组5（人绒毛膜促性腺激素试验应答正常但诊断不明确）30例。在生后按女或兼性养育的71例患儿中，66例选择男性，5例继续女性（其中3例被动选择女性，组4、5中2例有子宫者主动选择女性）。在71例面临性别选择的患儿中，仅1例不满意，为术后女性。不同疾病诊断、手术年龄、阴茎长度的术后性别满意度之间差异均无统计学意义[分别为χ(2)(H)=6.007，P=0.199；Z=-0.860，P=0.390；Z=-0.438，P=0.661]。85例患儿中59例配合完成性别倾向量表测试，一致者46例（78%），男性45例。不一致者13例（22%），均为≥5岁生后要女或兼性养育者，在日常生活、学校社交方面，均无被笑话、被排斥现象。≥11岁男性共22例，年龄13（12,16）岁。14例（64%）阴茎长度达正常低限，15例（68%）睾丸体积≥4 ml，16例（73%）性激素进入青春期水平，12例（55%）患儿遗精，初遗年龄（13.3±2.4）岁，对术后满意且适应性好。各组患儿上述指标间的差异均无统计学意义（分别为χ²=2.999，P=0.694；χ²=7.278，P=0.086；χ²=5.597，P=0.358；χ²=6.904，P=0.127）。 结论： 46, XY性发育异常患儿获得诊断后，按性腺状况选择社会性别适宜。无论诊断、手术年龄与首诊阴茎长度，男性者对术后性别均满意。少数生后女或兼性养育者与量表性别测试结果不一致，需持续特别关注。部分患儿出现男性自然青春期发育，预后可能理想。.
Keywords: 46, XY disorders of sex development; Follow-up studies; Sex defermination analysis.