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目的探讨17α-羟化酶缺乏症的影像表现,提高对该病影像征象的认识,减少误诊。方法分析报道1例经染色体检查确诊为17α-羟化酶缺乏症患者的生殖系统、骨关节影像图像,并复习相关文献。结果患者呈女性外阴,无子宫、输卵管及卵巢,阴道未发育。骨骼系统表现为骨质疏松,骨骺延迟闭合,双侧股骨头缺血坏死。结论17α-羟化酶缺乏症的影像学特征有肾上腺增生,子宫、输卵管及卵巢、阴道缺如或发育不良,双侧睾丸显示,骨质疏松,骨龄延迟。
Objective To investigate the imaging manifestations of 17α-hydroxylase deficiency, to improve the understanding of the imaging signs of the disease and to reduce misdiagnosis. Methods A case report of reproductive system, joint and joint imaging in 17 patients diagnosed as 17α-hydroxylase deficiency by chromosomal examination was reported and reviewed. Results The patient was female genital, uterine, fallopian tube and ovary, vaginal undeveloped. Skeletal system performance for osteoporosis, epiphyseal delayed closure, bilateral avascular necrosis. Conclusions The imaging features of 17α-hydroxylase deficiency include adrenal hyperplasia, uterus, fallopian tube and ovary, absence of vagina or hypoplasia. Bilateral testes showed osteoporosis and delayed bone age.