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细胞色素P450氧化还原酶缺乏症(PORD)是一种罕见的先天性肾上腺皮质增生症(CAH)亚型,可导致两性外生殖器畸形和类固醇合成障碍,且常伴有骨骼畸形。本文通过一例因原发性闭经伴有特殊骨骼畸形的少女就诊而发现细胞色素P450氧化还原酶(POR)基因突变的病例,深入学习PORD和Antley-Bixler综合征(ABS)的机制和临床表现,并探讨其诊治策略和长期管理。
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基本信息:
中图分类号:R711.51;R586
引用信息:
[1]丁蕾蕾,田秦杰,邓姗.因原发性闭经伴骨骼异常发现细胞色素P450氧化还原酶基因突变1例[J].生殖医学杂志,2023,32(06):920-924.
2023-06-15
2023-06-15