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Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

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Abstract

Background

11β-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH). It is caused by the mutation of the CYP11B1 gene that encodes the enzyme. Researches have shown that mutations of the CYP11B1 gene would result in activity decrease or inactivation of the enzyme in classical 11β-hydroxylase deficiency.

Data sources

Articles on CAH and CYP11B1 gene mutation were retrieved from PubMed and MEDLINE published after 1991.

Results

The prevalence, pathophysiology, and molecular-genetic mechanisms were summarized.

Conclusions

The disease is caused by genetic mutations of CYP11B1, and types of the mutations are varied. In classical 11β-hydroxylase deficiency, genetic mutations of CYP11B1 lead to activity decrease or loss; mutations in unclassical 11β-hydroxylase deficiency are not definite. And the relationship between genotype and phenotype is not established.

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Authors and Affiliations

  1. Department of Endocrinology, West China Hospital of Sichuan University, Chengdu, 610000, China

    Li-Qiang Zhao, Su Han & Hao-Ming Tian

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  1. Li-Qiang Zhao
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  2. Su Han
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  3. Hao-Ming Tian
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Correspondence to Su Han.

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Zhao, LQ., Han, S. & Tian, HM. Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. World J Pediatr 4, 85–90 (2008). https://doi.org/10.1007/s12519-008-0016-8

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  • DOI: https://doi.org/10.1007/s12519-008-0016-8

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