Congenital Adrenal Hyperplasia

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Tang, P. Congenital Adrenal Hyperplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/6028 (accessed on 26 September 2026).

Tang P. Congenital Adrenal Hyperplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/6028. Accessed September 26, 2026.

Tang, Peter. "Congenital Adrenal Hyperplasia" Encyclopedia, https://encyclopedia.pub/entry/6028 (accessed September 26, 2026).

Tang, P. (2021, January 04). Congenital Adrenal Hyperplasia. In Encyclopedia. https://encyclopedia.pub/entry/6028

Tang, Peter. "Congenital Adrenal Hyperplasia." Encyclopedia. Web. 04 January, 2021.

Congenital Adrenal Hyperplasia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.

genetic conditions

References

Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ,Grötzinger J, Peter M, Sippell WG. Congenital adrenal hyperplasia due to11-hydroxylase deficiency: functional characterization of two novel pointmutations and a three-base pair deletion in the CYP11B1 gene. J Clin EndocrinolMetab. 2005 Jun;90(6):3724-30.
Nimkarn S, New MI. Steroid 11beta- hydroxylase deficiency congenital adrenalhyperplasia. Trends Endocrinol Metab. 2008 Apr;19(3):96-9. doi:10.1016/j.tem.2008.01.002.
Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, ConwayGS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassicand three mutations causing classic 11{beta}-hydroxylase deficiency. J ClinEndocrinol Metab. 2010 Feb;95(2):779-88. doi: 10.1210/jc.2009-0651.
Peter M. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency. Semin Reprod Med. 2002 Aug;20(3):249-54. Review.
Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M,Shackleton C, Imperato-McGinley J. Mutations in CYP11B1 gene: phenotype-genotype correlations. Am J Med Genet A. 2003 Oct 15;122A(3):193-200.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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