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中华妇幼临床医学杂志(电子版)

中华妇幼临床医学杂志(电子版) ›› 2022, Vol. 18 ›› Issue (01) : 61 -66. doi: 10.3877/cma.j.issn.1673-5250.2022.01.008

论著

46，XY女性性发育异常临床分析
马若骛, 郭雅彬, 张清学, 谢梅青†()   
  • 收稿日期:2021-09-07 修回日期:2022-01-09 出版日期:2022-02-01
  • 通信作者: 谢梅青

Clinical analysis of 46, XY disorder of sex development

Ruowu Ma, Yabin Guo, Qingxue Zhang, Meiqing Xie†()   

  • Received:2021-09-07 Revised:2022-01-09 Published:2022-02-01
  • Corresponding author: Meiqing Xie
  • Supported by:
    National Natural Science Foundation of China(81971332)
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引用本文：

马若骛, 郭雅彬, 张清学, 谢梅青. 46，XY女性性发育异常临床分析[J]. 中华妇幼临床医学杂志(电子版), 2022, 18(01): 61-66.

Ruowu Ma, Yabin Guo, Qingxue Zhang, Meiqing Xie. Clinical analysis of 46, XY disorder of sex development[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(01): 61-66.

目的

探讨完全型雄激素不敏感综合征(CAIS)和46，XY单纯性腺发育不全综合征(Swyer综合征) 2种最常见46，XY女性性发育异常疾病(DSD)的临床特征、诊疗方式、鉴别诊断要点。

方法

选择2002—2020年，于中山大学孙逸仙纪念医院就诊的临床病例资料完整的41例46，XY DSD患者，包括20例CAIS(CAIS组)患者和21例Swyer综合征(Swyer组)患者。对该41例患者的临床表现、实验室检查结果、术中情况及组织病理学检查结果进行回顾性分析。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。

结果

①41例46，XY DSD患者在出生及成长过程中的社会性别均为女性，就诊年龄为12~38岁。2组患者年龄比较，差异无统计学意义(P>0.05)。CAIS组患者身高、体重均高于或重于Swyer组，并且差异有统计学意义(P<0.05)。②2组患者血清卵泡刺激素(FSH)、睾酮、雌二醇、17α-羟孕酮(17α-OHP)水平比较，差异均有统计学意义(P<0.05)；而2组血清促黄体激素(LH)、催乳素、脱氢表雄酮(DHEA)水平比较，则差异均无统计学意义(P>0.05)。CAIS组患者抗苗勒管激素(AMH)水平均>16 ng/mL，Swyer组均<0.03 ng/mL。③39例接受手术治疗患者中，35例行腹腔镜下性腺切除术，4例行开腹肿瘤细胞减灭术。④CAIS组患者性腺肿瘤发生率为35.0%(7/20)，Swyer组为36.8%(7/19)。CAIS组患者性腺有自伞端向腹股沟管迁移趋势，其中4例性腺位于腹股沟管内，Swyer组患者性腺均位于盆腔内。⑤41位患者出院后，均继续以女性性别生活，已婚者性生活无障碍。

结论

CAIS与Swyer综合征患者临床表现相似，CAIS患者存在苗勒管遗迹，Swyer综合征患者存在子宫发育不良等变异，并且均有不同程度的性腺迁移趋势。 AMH水平检测可作为区别CAIS与Swyer综合征患者的特异性指标。

关键词: 性发育, 雄激素不敏感综合征, 46，XY性发育障碍, 性腺发育不全，46，XY, 妇科外科手术, 病理学, 妇女
Objective

To explore clinical features, treatment and differential diagnosis of complete androgen insensitivity syndrome (CAIS) and 46, XY pure gonadal dysgenesis syndrome (Swyer syndrome), the two most common 46, XY female disorders of sex development (DSD) phenotypes.

Methods

From 2002 to 2020, a total of 41 cases of 46, XY DSD, including 20 cases of CAIS and 21 cases of Swyer syndrome diagonsed in Sun Yat-Sen Memorial Hospital were selected into this study. They were divided into CAIS group (n=21, CAIS patients) and Swyer group (n=21, Swyer patients). Their clinical manifestations, laboratory data, operative conditions and pathological results of the patients were analyzed by retrospective analysis method. The procedure followed in this study met requirements of the Helsinki Declaration of the World Medical Association revised in 2013.

Results

①All the 41 patients were born and raised up as female. The age at first visit was around 12 to 38 years old. There was no significant difference in age between two groups (P>0.05). The height and weight of CAIS group were significantly higher than those of Swyer group (P<0.05). ②There were significantly differences in levels of serum follicle stimulating hormone (FSH), testosterone, estradiol and 17α-hydroxyprogesterone (17α-OHP) between two groups (P<0.05). There were no significant differences in serum luteinizing hormone (LH), prolactin and dehydroepiandrosterone (DHEA) between two groups (P>0.05). The levels of anti-mullerian hormone (AMH) in CAIS group were all > 16 ng/mL, and those in Swyer group were all < 0.03 ng/mL. ③Among 39 cases received surgical treatment, 35 cases underwent laparoscopic bilateral gonadectomy, 4 cases underwent open cytoreductive surgery. ④The incidences of gonadal tumor in CAIS group and Swyer group were 35.0% (7/20), 36.8% (7/19), respectively. Gonads of CAIS patients tended to migrate from fimbria to inguinal canal and in Swyer group, all of gonads were located in pelvic cavity.

Conclusions

Both CAIS and Swyer syndrome belong to 46, XY DSD, the clinical phenotype is similar to some extent, sex hormones and other indicators are different between 2 groups patients, AMH can be used as an important laboratory examination index to distinguish them.

Key words: Sexual development, Androgen insensitivity syndrome, 46, XY disorders of sex development, Gonadal dysgenesis, 46, XY, Gynecologic surgical procedures, Pathology, Women
表1 2组46，XY DSD患者一般临床资料比较[M(P25~P75)]
组别 例数 年龄(岁) 身高(cm) 体重(kg)
CAIS组 20 20.0(16.2~21.0) 165.0(159.5~173.0) 52.0(48.5~60.2)
Swyer组 21 18.0(15.0~23.0) 160.0(148.0~166.0) 45.0(38.8~54.0)
U值   175.500 103.500 118.000
P值   0.367 0.025 0.016
表2 2组46，XY DSD患者血清性激素水平比较[M(P25~P75)]
组别 例数 LH(IU/L) 睾酮(nmol/L) 雌二醇(ng/L) 催乳素(μg/L) 17α-OHP (ng/mL)
CAIS组 20 28.4(19.6~45.6) 22.9(15.9~37.4) 35.5(26.0~47.5) 11.1(7.5~17.8) 1.4(0.9~1.9)
Swyer组 21 25.5(15.2~34.7) 0.9(0.6~2.1) 5.4(5.0~13.3) 14.9(10.2~21. 3) 0.7(0.4~0.8)
U值   180.000 0.000 0.000 200.000 11.000
P值   0.434 <0.001 <0.001 0.229 0.019
组别 例数 DHEA(ng/mL) 雌酮(pmol/L) SHBG(nmol/L) A2(ng/mL) FSH
CAIS组 20 2 024.9(543.9~3 290.0) 89.7(45.3~291.0) 58.1(42.6~97.3) 7.2(3.0~21.6) 7.9(3.9~23.3)
Swyer组 21 613.0(573.0~1 161.6) 96.5(61.1~172.5) 53.8(50.3~128.8) 1.2(0.8~1.6) 86.0(61.4~105.5)
U值   23.000 13.000 40.000 1.000 404.000
P值   0.160 0.917 0.626 0.110 <0.001
表3 2组46，XY DSD并发性腺肿瘤患者的一般临床资料比较[M(P25~P75)]
组别 例数 年龄(岁) 身高(cm) 体重(kg)
CAIS组 7 21(18~33) 165.0(164.0~173.0) 51.0(48.0~63.0)
Swyer组 7 17(15~24) 164.5(156.0~170.5) 51.5(40.0~63.0)
U值   11.000 17.000 21.500
P值   0.084 0.566 0.701
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