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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。
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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)
2025-08-15
2025-08-15