nav emailalert searchbtn searchbox tablepage yinyongbenwen piczone journalimg journalInfo journalinfonormal searchdiv searchzone qikanlogo popupnotification paper paperNew
2025, 08, v.34 1119-1122
MAP3K1致病性变异导致46,XY单纯性腺发育不全1例病例报告并文献复习
基金项目(Foundation): 国家临床重点专科建设项目(U114000)
邮箱(Email):
DOI:
摘要:

46,XY单纯性腺发育不全临床表现复杂多样,易漏诊、误诊,若不及时诊治可能会给患者及其家庭带来深远影响。本文报道了1例MAP3K1致病性变异导致46,XY单纯性腺发育不全的病例,对其诊疗经过进行回顾,并对相关文献进行复习总结,以期为46,XY单纯性腺发育不全的早期诊断与治疗及临床决策优化提供更多参考。

Abstract:

KeyWords:
参考文献

[1] Michala L,Goswami D,Creighton S,et al.Swyer syndrome:presentation and outcomes[J].BJOG,2008,115:737-741.

[2]傅淑娜,潘宁萍,吴瑞瑾.46,XY单纯性腺发育不全21例临床分析[J].现代妇产科进展,2019,28:206-208,211.

[3] King TF,Conway GS.Swyer syndrome[J].Curr Opin Endocrinol Diabetes Obes,2014,21:504-510.

[4]丁蕾蕾,田秦杰.性发育异常的基因诊断现状和研究进展[J].生殖医学杂志,2024,33:1125-1131.

[5] Jorgensen PB,Kjartansdóttir KR,Fedder J.Care of women with XY karyotype:a clinical practice guideline[J].Fertil Steril,2010,94:105-113.

[6]?atl?G,Alparslan C,Can P?,et al.An unusual presentation of 46,XY pure gonadal dysgenesis:Spontaneous breast development and menstruation[J].J Clin Res Pediatr Endocrinol,2015,7:159-162.

[7] Ostrer H.Pathogenic variants in MAP3K1 cause 46,XY gonadal dysgenesis:A review[J].Sex Dev,2022,16:92-97.

[8] Wang J,Kimura E,Mongan M,et al.Genetic control of MAP3K1in eye development and sex differentiation[J].Cells,2021,11:34.

[9]杜融,唐向亮,赵天鑫,等.46,XY性发育异常基因诊断专家共识[J].中华男科学杂志,2024,30:83-95.

[10] Cheng Y,Chen J,Zhou X,et al.Characteristics and possible mechanisms of 46,XY differences in sex development caused by novel compound variants in NR5A1and MAP3K1[J].Orphanet J Rare Dis,2021,16:268.

[11] Chen H,Chen Q,Zhu Y,et al. MAP3K1 variant causes hyperactivation of Wnt4/β-Catenin/FOXL2signaling contributing to 46,XY disorders/differences of sex development[J].Front Genet,2022,13:736988.

[12] Ostrer H.Pathogenic variants in MAP3K1 cause 46,XY gonadal dysgenesis:A review[J].Sex Dev,2022,16:92-97.

[13] Baker VL,Schillings WJ.Amenorrhea[A].In:Berek JS,Novak E(ed).Berek&Novak’s gynecology[M].15th ed.Philadelphia:Lippincott Williams&Wilkins Press,2012:1035-1062.

[14] Wisniewski AB,Batista RL,Costa EMF,et al.Management of 46,XY differences/disorders of sex development(DSD)throughout life[J].Endocr Rev,2019,40:1547-1572.

[15] Yu T,Liu L.Pure 46,XY gonadal dysgenesis and 46,XY complete androgen insensitivity syndrome:A case report[J].Medicine(Baltimore),2024,103:e38297.

[16] Deans R,Creighton SM,Liao LM,et al. Timing of gonadectomy in adult women with complete androgen insensitivity syndrome(CAIS):patient preferences and clinical evidence[J].Clin Endocrinol(Oxf),2012,76:894-898.

[17] Johannsen TH,Ripa CP,Mortensen EL,et al.Quality of life in 70women with disorders of sex development[J].Eur J Endocrinol,2006,155:877-885.

[18] Tulic I,Tulic L,Micic J.Pregnancy in patient with Swyer syndrome[J].Fertil Steril,2011,95:1789.

[19] Urban A,Knap-Wielgus W,Grymowicz M,et al. Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome-a case report[J].Prz Menopauzalny,2021,20:158-161.

[20] Weisshaupt K,Henrich W,Neymeyer J,et al. Mode of delivery of women with Swyer syndrome in a German case series[J].J Perinat Med,2021,49:725-732.

[21] Winkler I,Jaszczuk I,Gogacz M,et al.A successful new case of twin pregnancy in a patient with Swyer syndrome-an up-todate review on the incidence and outcome of twin/multiple gestations in the pure 46,XY gonadal dysgenesis[J].Int J Environ Res Public Health,2022,19:5027.

基本信息:

中图分类号:R711.1

引用信息:

[1]黄桉风,宋小红,熊巍.MAP3K1致病性变异导致46,XY单纯性腺发育不全1例病例报告并文献复习[J].生殖医学杂志,2025,34(08):1119-1122.

基金信息:

国家临床重点专科建设项目(U114000)

发布时间:

2025-08-15

出版时间:

2025-08-15

检 索 高级检索

引用

GB/T 7714-2015 格式引文
MLA格式引文
APA格式引文