换一批
换一批女性表型46，XY性发育障碍的临诊应对
Approach to the patient with female phenotype 46, XY disorders of sex development
摘要46，XY性发育障碍病因复杂，临床表现异质性大，其中女性表型者常于青春期因原发性闭经就诊，难以发现。本文通过3例经基因测序确诊的女性表型者的临床特点进行分析，并对该病的发病机制、临床表现、诊断及治疗等进行文献复习。
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abstractsThe etiology of 46, XY disorders of sex development is complex and the clinical manifestations are various. Patients with a female phenotype often present with primary amenorrhea during adolescence, which is difficult to find. We analyze the clinical features of 3 cases of female phenotype diagnosed by gene sequencing. The pathogenesis, clinical manifestations, diagnosis, and treatment were reviewed.
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栏目名称
DOI
10.3760/cma.j.cn311282-20200702-00490
发布时间
2025-04-15
- 浏览120
- 被引1
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