切换至 "中华医学电子期刊资源库"

中华妇幼临床医学杂志(电子版) ›› 2023, Vol. 19 ›› Issue (02) : 145 -150. doi: 10.3877/cma.j.issn.1673-5250.2023.02.004

专题论坛

超雌综合征的临床认知
曾照敏, 余海燕()   
  1. 四川大学华西第二医院妇产科、出生缺陷与相关妇儿疾病教育部重点实验室,成都 610041
  • 收稿日期:2022-11-30 修回日期:2023-03-07 出版日期:2023-04-01
  • 通信作者: 余海燕

Clinical cognition of superfemale syndrome

Zhaomin Zeng, Haiyan Yu()   

  1. Department of Obstetrics and Gynecology, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2022-11-30 Revised:2023-03-07 Published:2023-04-01
  • Corresponding author: Haiyan Yu
  • Supported by:
    Natural Science Foundation of Sichuan Province(2022NSFSC0659)
引用本文:

曾照敏, 余海燕. 超雌综合征的临床认知[J]. 中华妇幼临床医学杂志(电子版), 2023, 19(02): 145-150.

Zhaomin Zeng, Haiyan Yu. Clinical cognition of superfemale syndrome[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(02): 145-150.

超雌综合征(superfemale syndrome)是一种性染色体非整倍体(SCA)的性染色体三体综合征。该病患者性染色体核型多为47,XXX,其临床表型差异大。随着人们孕期保健意识的增强及产前诊断技术的发展与普及,超雌综合征胎儿的产前检出率逐渐增高。产前诊断胎儿合并超雌综合征后,需要多学科团队(MDT)专家评估胎儿预后,对妊娠夫妇提供详细、无偏倚的临床咨询。超雌综合征胎儿出生后,仍需要MDT协作,对患儿尽早进行必要的康复训练和临床干预。笔者拟对超雌综合征胎儿的遗传学背景、临床表型及诊断、是否继续妊娠选择、围产儿结局及其子代再发风险的相关研究最新进展进行阐述,旨在为该病患儿的临床咨询提供参考。

Superfemale syndrome is a trisomy syndrome of sex chromosome aneuploidy (SCA). The karyotype of most patients with superfemale syndrome is 47, XXX, and their clinical phenotypes vary greatly. With the enhancement of people′s awareness of health care during pregnancy, and development and popularization of prenatal diagnostic techniques, prenatal detection rate of fetuses with superfemale syndrome has increased. When prenatal diagnosis finds that fetus is complicated with superfemale syndrome, experts in multidisciplinary team(MDT) are required to evaluate fetal prognosis and provide detailed and unbiased clinical consultation for pregnant couples. After birth, fetuses with superfemale syndrome still need MDT to conduct necessary rehabilitation training and clinical intervention as soon as possible. In this paper, latest research progresses on genetic background, clinical phenotype and diagnosis, pregnancy selection, perinatal outcome, and risk of recurrence of offspring with superfemale syndrome or not are described in order to provide reference to pregnant couples of clinical consultation.

[1]
Tartaglia NR, Howell S, Sutherland A, et al. A review of trisomy X (47,XXX)[J]. Orphanet J Rare Dis, 2010, 5: 8. DOI: 10.1186/1750-1172-5-8.
[2]
Berglund A, Stochholm K, Gravholt CH. The epidemiology of sex chromosome abnormalities[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 202-215. DOI: 10.1002/ajmg.c.31805.
[3]
Green T, Flash S, Reiss AL. Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies[J]. Neuropsychopharmacology, 2019, 44(1): 9-21. DOI: 10.1038/s41386-018-0153-2.
[4]
Otter M, Crins PML, Campforts BCM, et al. Social functioning and emotion recognition in adults with triple X syndrome[J]. BJPsych Open, 2021, 7(2): e51. DOI: 10.1192/bjo.2021.8.
[5]
Wigby K, Cordeiro L, Wilson R, et al. Adaptive functioning in children and adolescents with trisomy X: an exploratory analysis[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 456-468. DOI: 10.1002/ajmg.c.31803.
[6]
Navarro-Cobos MJ, Balaton BP, Brown CJ. Genes that escape from X-chromosome inactivation: potential contributors to Klinefelter syndrome[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 226-238. DOI: 10.1002/ajmg.c.31800.
[7]
Nielsen MM, Trolle C, Vang S, et al. Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 279-293. DOI: 10.1002/ajmg.c.31799.
[8]
Mikwar M, MacFarlane AJ, Marchetti F. Mechanisms of oocyte aneuploidy associated with advanced maternal age[J]. Mutat Res Rev Mutat Res, 2020, 785: 108320. DOI: 10.1016/j.mrrev.2020.108320.
[9]
Berglund A, Viuff MH, Skakkebæk A, et al. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study[J]. Orphanet J Rare Dis, 2019, 14(1): 16. DOI: 10.1186/s13023-018-0976-2.
[10]
Xu Y, Chen L, Liu Y, et al. Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy[J]. Expert Rev Mol Diagn, 2019, 19(6): 537-542. DOI: 10.1080/14737159.2019.1613154.
[11]
Lu Y, Zhou S, Linpeng S, et al. Cell-free DNA screening for sex chromosome abnormalities and pregnancy outcomes, 2018-2020: a retrospective analysis[J]. J Pers Med, 2022, 12(1): 48. DOI: 10.3390/jpm12010048.
[12]
Chen Y, Lu L, Zhang Y, et al. Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies[J]. Am J Med Genet A, 2022, 188(5): 1426-1434. DOI: 10.1002/ajmg.a.62657.
[13]
Li J, Xie M, Wang F, et al. A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21[J]. Mol Genet Genomic Med, 2020, 8(8): e1279. DOI: 10.1002/mgg3.1279.
[14]
Gravholt CH, Viuff MH, Brun S, et al. Turner syndrome: mechanisms and management[J]. Nat Rev Endocrinol, 2019, 15(10): 601-614. DOI: 10.1038/s41574-019-0224-4.
[15]
Gravholt CH, Tartaglia N, Disteche C. Sex chromosome aneuploidies in 2020-The state of care and research in the world[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 197-201. DOI: 10.1002/ajmg.c.31808.
[16]
Berglund A, Stochholm K, Gravholt CH. The comorbidity landscape of 47,XXX syndrome: a nationwide epidemiologic study[J]. Genet Med, 2022, 24(2): 475-487. DOI: 10.1016/j.gim.2021.10.012.
[17]
Urbanus E, van Rijn S, Swaab H. A review of neurocognitive functioning of children with sex chromosome trisomies: identifying targets for early intervention[J]. Clin Genet, 2020, 97(1): 156-167. DOI: 10.1111/cge.13586.
[18]
Warling A, Liu S, Wilson K, et al. Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognition[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 493-505. DOI: 10.1002/ajmg.c.31795.
[19]
Serrarens C, Otter M, Campforts BCM, et al. Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging study[J]. J Neurodev Disord, 2022, 14(1): 14. DOI: 10.1186/s11689-022-09425-1.
[20]
van Rijn S. A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY)[J]. Curr Opin Psychiatry, 2019, 32(2): 79-84. DOI: 10.1097/YCO.0000000000000471.
[21]
Freilinger P, Kliegel D, Hanig S, et al. Behavioral and psychological features in girls and women with triple-X syndrome[J]. Am J Med Genet A, 2018, 176(11): 2284-2291. DOI: 10.1002/ajmg.a.40477.
[22]
Wigby K, D′Epagnier C, Howell S, et al. Expanding the phenotype of Triple X syndrome: a comparison of prenatal versus postnatal diagnosis[J]. Am J Med Genet A, 2016, 170(11): 2870-2881. DOI: 10.1002/ajmg.a.37688.
[23]
Davis SM, Soares K, Howell S, et al. Diminished ovarian reserve in girls and adolescents with trisomy X syndrome[J]. Reprod Sci, 2020, 27(11): 1985-1991. DOI: 10.1007/s43032-020-00216-4.
[24]
Tang R, Lin L, Guo Z, et al. Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: a case report and a review of literature[J]. Mol Genet Genomic Med, 2019, 7(7): e00732. DOI: 10.1002/mgg3.732.
[25]
Yamazaki S, Akutsu Y, Shimbo A, et al. Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report[J]. Pediatr Rheumatol Online J, 2021, 19(1): 20. DOI: 10.1186/s12969-021-00507-3.
[26]
Liu K, Kurien BT, Zimmerman SL, et al. X chromosome dose and sex bias in autoimmune diseases: increased prevalence of 47,XXX in systemic lupus erythematosus and Sjögren′s syndrome[J]. Arthritis Rheumatol, 2016, 68(5): 1290-1300.DOI:10.1002/art.39560.
[27]
Riggan KA, Close S, Allyse MA. Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 404-413. DOI: 10.1002/ajmg.c.31781.
[28]
Urbanus E, Swaab H, Tartaglia N, et al. The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)[J]. Am J Med Genet C Semin Med Genet, 2020, 184(2): 444-455. DOI: 10.1002/ajmg.c.31788.
[29]
Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: report of a patient and a literature review[J]. Am J Med Genet A, 2017, 173(7): 1961-1964. DOI: 10.1002/ajmg.a.38276.
[30]
蔡艾杞,章锦曼,唐新华,等. 胎儿拷贝数变异的产前诊断与遗传咨询[J/OL]. 中华妇幼临床医学杂志(电子版), 2021, 17(3): 262-267. DOI: 10.3877/cma.j.issn.1673-5250.2021.03.004.
[31]
Martel RA, Blakemore JK, Fino ME. The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes[J]. J Assist Reprod Genet, 2022, 39(5): 1143-1153. DOI: 10.1007/s10815-022-02469-1.
[32]
Deng C, Cheung SW, Liu H. Noninvasive prenatal screening for fetal sex chromosome aneuploidies[J]. Expert Rev Mol Diagn, 2021, 21(4): 405-415. DOI: 10.1080/14737159.2021.1911651.
[1] 杨水华, 何桂丹, 覃桂灿, 梁蒙凤, 罗艳合, 李雪芹, 唐娟松. 胎儿孤立性完全型肺静脉异位引流的超声心动图特征及高分辨率血流联合时间-空间相关成像的应用[J]. 中华医学超声杂志(电子版), 2023, 20(10): 1061-1067.
[2] 衣晓丽, 胡沙沙, 张彦. HER-2低表达对乳腺癌新辅助治疗疗效及预后的影响[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 340-346.
[3] 张思平, 刘伟, 马鹏程. 全膝关节置换术后下肢轻度内翻对线对疗效的影响[J]. 中华关节外科杂志(电子版), 2023, 17(06): 808-817.
[4] 李越洲, 张孔玺, 李小红, 商中华. 基于生物信息学分析胃癌中PUM的预后意义[J]. 中华普通外科学文献(电子版), 2023, 17(06): 426-432.
[5] 张俊, 罗再, 段茗玉, 裘正军, 黄陈. 胃癌预后预测模型的研究进展[J]. 中华普通外科学文献(电子版), 2023, 17(06): 456-461.
[6] 马伟强, 马斌林, 吴中语, 张莹. microRNA在三阴性乳腺癌进展中发挥的作用[J]. 中华普外科手术学杂志(电子版), 2024, 18(01): 111-114.
[7] 杨倩, 李翠芳, 张婉秋. 原发性肝癌自发性破裂出血急诊TACE术后的近远期预后及影响因素分析[J]. 中华普外科手术学杂志(电子版), 2024, 18(01): 33-36.
[8] 栗艳松, 冯会敏, 刘明超, 刘泽鹏, 姜秋霞. STIP1在三阴性乳腺癌组织中的表达及临床意义研究[J]. 中华普外科手术学杂志(电子版), 2024, 18(01): 52-56.
[9] 江振剑, 蒋明, 黄大莉. TK1、Ki67蛋白在分化型甲状腺癌组织中的表达及预后价值研究[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 623-626.
[10] 晏晴艳, 雍晓梅, 罗洪, 杜敏. 成都地区老年转移性乳腺癌的预后及生存因素研究[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 636-638.
[11] 鲁鑫, 许佳怡, 刘洋, 杨琴, 鞠雯雯, 徐缨龙. 早期LC术与PTCD续贯LC术治疗急性胆囊炎对患者肝功能及预后的影响比较[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 648-650.
[12] 姜明, 罗锐, 龙成超. 闭孔疝的诊断与治疗:10年73例患者诊疗经验总结[J]. 中华疝和腹壁外科杂志(电子版), 2023, 17(06): 706-710.
[13] 李永胜, 孙家和, 郭书伟, 卢义康, 刘洪洲. 高龄结直肠癌患者根治术后短期并发症及其影响因素[J]. 中华临床医师杂志(电子版), 2023, 17(9): 962-967.
[14] 王军, 刘鲲鹏, 姚兰, 张华, 魏越, 索利斌, 陈骏, 苗成利, 罗成华. 腹膜后肿瘤切除术中大量输血患者的麻醉管理特点与分析[J]. 中华临床医师杂志(电子版), 2023, 17(08): 844-849.
[15] 索利斌, 刘鲲鹏, 姚兰, 张华, 魏越, 王军, 陈骏, 苗成利, 罗成华. 原发性腹膜后副神经节瘤切除术麻醉管理的特点和分析[J]. 中华临床医师杂志(电子版), 2023, 17(07): 771-776.
阅读次数
全文


摘要