| 摘要: |
| 1991年首次报道CYP11B1基因突变引起11β-羟化酶缺陷症(11β-hydroxylase deficiency,11β-OHD)以来,最新研究表明11β-OHD 占先天性肾上腺皮质增生症(congennital adrenal hyperplasia,CAH) 的0.2%~8.0%,在普通人群中发病率为1/9 000 000,而在从摩洛哥移民到以色列的犹太人群中,该病在新生儿中的发病率高达1/7 000~ 1/5 000,不同的地区及种群发病率不同, 其在中东和北非等地区发病率最高 |
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| DOI：10.13407/j.cnki.jpp.1672-108X.2022.11.013 |
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| Progress of 11β-Hydroxylase Deficiency |
| Liu Li, Zhu Min |
| (Children’s Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China) |
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