Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

Author:

Wang Dongdong,Wang Jiahui,Tong Tong,Yang Qing

Publisher

Springer Science and Business Media LLC

Subject

Obstetrics and Gynecology,Oncology

Reference35 articles.

1. Bulsari K, Falhammar H. Clinical perspectives in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Endocrine. 2017;55(1):19–36.

2. Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, et al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA. 1993;90(10):4552–6.

3. Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, et al. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab. 1998;83(1):270–3.

4. Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia. Trends Endocrinol Metab. 2008;19(3):96–9.

5. Geley S, Kapelari K, Johrer K, Peter M, Glatzl J, Vierhapper H, et al. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab. 1996;81(8):2896–901.

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