上海交通大学学报（医学版）

上海交通大学学报(医学版) ›› 2021, Vol. 41 ›› Issue (11): 1412-1416.doi: 10.3969/j.issn.1674-8115.2021.11.002

• 儿童性发育异常专题 • 上一篇    下一篇

46，XY性发育异常儿童患者性别分配结果分析

梁䶮1(), 吕逸清1(), 谢华1, 黄轶晨1, 李晓溪1, 李嫔2, 奚益群3   

  1. 1.上海交通大学附属儿童医院/上海市儿童医院泌尿外科，上海 200062
    2.上海交通大学附属儿童医院/上海市儿童医院内分泌科，上海 200062
    3.上海交通大学附属儿童医院/上海市儿童医院伦理委员会，上海 200062
  • 出版日期:2021-11-28 发布日期:2021-12-03
  • 通讯作者: 吕逸清 E-mail:sh2013liangyan@126.com;Tristan_ren@hotmail.com
  • 作者简介:梁䶮（1991—），女，主治医师，硕士；电子信箱：sh2013liangyan@126.com。
  • 基金资助:
    上海市卫生健康委员会卫生行业临床研究专项(201940223);上海申康医院发展中心临床三年行动计划项目(SHDC2020CR2058B);上海市科学技术委员会医学创新研究专项重点项目(21Y21901000)

Analysis of gender assignment in children with 46, XY disorders of sex development

Yan LIANG1(), Yi-qing LÜ1(), Hua XIE1, Yi-chen HUANG1, Xiao-xi LI1, Pin LI2, Yi-qun XI3   

  1. 1.Department of Urology, Children's Hospital of Shanghai Jiao Tong University/Children's Hospital of Shanghai, Shanghai 200062, China
    2.Department of Pediatric Endocrinology, Children's Hospital of Shanghai Jiao Tong University/Children's Hospital of Shanghai, Shanghai 200062, China
    3.Ethics Committee, Children's Hospital of Shanghai Jiao Tong University/Children's Hospital of Shanghai, Shanghai 200062, China
  • Online:2021-11-28 Published:2021-12-03
  • Contact: Yi-qing Lü E-mail:sh2013liangyan@126.com;Tristan_ren@hotmail.com
  • Supported by:
    Special Subject of Clinical Research of Shanghai Municipal Health Commission(201940223);Three Years Clinical Research Plan of Shanghai Shenkang Hospital Development Center(SHDC2020CR2058B);Special Key Project of Medical Innovation Research of Science and Techology Commission of Shanghai Municipality(21Y21901000)

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摘要：

目的·了解46，XY性发育异常患者性别分配并分析选择结果，为类似患者临床决策提供参考依据。方法·对2015—2018年于上海交通大学附属儿童医院诊治的46，XY性发育异常患者进行回顾性研究，所有患者均在内分泌科完成全面评估。在经过多学科诊疗模式团队讨论及与患者和/或家属充分沟通后进行性别分配，分析不同情况患者的性别分配结果。性别分配手术后1个月开始随访，直到患者成年。心理评估在患者青春期后进行。结果·共选取52例资料完整的46，XY性发育异常病例。入院前社会性别为女性者26例，男性者26例。社会性别为女性的患者中有13例性别分配仍为女性，其中6例诊断为完全性雄激素不敏感综合征，2例为17α-羟化酶缺乏症伴性激素水平严重低下，1例为完全型性腺发育不全，4例为睾丸发育异常（睾丸功能严重低下）；另13例患者性别分配为男性，其中3例为部分性雄激素不敏感综合征，4例为5α-还原酶缺乏，2例为雄激素合成障碍，4例患者病因不明（性腺活检手术提示双侧性腺为睾丸组织）。社会性别为男性的患者中，所有病例性别分配均为男性，其中11例诊断为5α-还原酶缺乏，6例为部分性雄激素不敏感综合征，4例为雄激素合成障碍，5例患者病因不明（性腺活检手术提示2例为双侧睾丸组织，3例为单侧性腺发育不良伴对侧睾丸组织）。达到心理评估年龄的13例患者，均未出现性别认同混乱。结论·明确诊断为完全型性腺发育不全、完全性雄激素不敏感综合征和睾丸发育异常（睾丸功能严重低下）的46，XY性发育异常患者，可考虑进行女性性别分配；5α-还原酶缺乏及部分性雄激素不敏感综合征的患者可考虑进行男性性别分配；对于目前病因不明的患者，则应根据具体表型及患者家庭实际情况而综合考量。

关键词: 46，XY性发育异常, 性别分配, 5α-还原酶缺乏, 雄激素不敏感综合征, 尿道下裂

Abstract:

Objective·To explore the results of gender assignment of the patients with 46,XY disorders of sex development (DSD), and provide reference for clinical decision-making of similar patients.

Methods·The clinical data of 46,XY DSD patients who were treated in Children's Hospital of Shanghai Jiao Tong University from 2015 to 2018 were collected. All the patients completed comprehensive assessments in the Department of Pediatric Endocrinology. Gender assignment was carried out after multidisciplinary treatment team discussion and full communication with the patients and/or the family members. The gender assignment results of these patients with different conditions were analyzed. The follow-up began 1 month after operation until 18 years old. Psychological assessment was performed after puberty.

Results·A total of 52 patients with 46,XY DSD were collected. Before admission, 26 cases were female and 26 cases were male. Thirteen female patients were assigned to the same gender, among whom 6 cases were diagnosed as having complete androgen insensitivity syndrome, 2 cases diagnosed as having 17α-hydroxylase deficiency with extremely poor testicular function, 1 diagnosed as having complete gonadal dysplasia, and 4 diagnosed as having testicular dysfunction; otherwise 13 female patients changed gender to male, because 3 patients had partial androgen insensitive syndrome, 4 patients had 5α-reductase deficiency, 2 patients had androgen synthesis disorder, and the etiology of 4 patients was unknown (gonadal biopsy showed that both gonads of the patients were testicular tissues). All the 26 male patients were assigned to the same gender, among whom 11 cases were diagnosed as having 5α-reductase deficiency, 6 diagnosed as having partial androgen insensitivity syndrome, 4 diagnosed as having androgen synthesis disorder, and 5 cases with unknown etiology (gonadal biopsy showed bilateral testicular tissues in 2 cases and unilateral gonadal dysplasia with contralateral testicular tissue in 3 cases). Thirteen patients who reached the age of psychological evaluation did not exist gender identity confusion.

Conclusion·The 46,XY DSD patients with complete gonadal dysplasia, complete androgen insensitivity syndrome or testicular dysfunction can be considered for female gender assignment. The patients with 5α-reductase deficiency or partial androgen insensitivity syndrome can be considered for male selection. For the children with unknown etiology, it should be considered comprehensively according to the specific phenotype and the actual situation of children's families.

Key words: 46, XY disorders of sex development, sex assignment, 5α-reductase deficiency, androgen insensitivity syndrome, hypospadias

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