摘要
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 explore the image features of 17a-hydroxylase deficiency, and to improve the recognition of the disease. Methods The clinical characteristic and image findings of one case with 17a-hydroxylase deficiency was analyzed, and the relative literatures was reviewed. Results The CT and MR images showed normal external genitalia without uterus, fallopian tubes, ovaries, or undeveloped vagina. Significant bone growth delay, osteoporosis, and necrosis of femoral head were also observed. Conclusion 17a-hydroxylase deficiency is characterized by adrenal hyperplasia, absence of the uterus and both ovaries, visible bilateral testicular structures, bone growth delay and osteoporosis .
出处
《临床放射学杂志》
CSCD
北大核心
2013年第11期1684-1686,共3页
Journal of Clinical Radiology
