21-hydroxylase deficiency

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Yang, C. 21-hydroxylase deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/3969 (accessed on 22 September 2026).

Yang C. 21-hydroxylase deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/3969. Accessed September 22, 2026.

Yang, Catherine. "21-hydroxylase deficiency" Encyclopedia, https://encyclopedia.pub/entry/3969 (accessed September 22, 2026).

Yang, C. (2020, December 23). 21-hydroxylase deficiency. In Encyclopedia. https://encyclopedia.pub/entry/3969

Yang, Catherine. "21-hydroxylase deficiency." Encyclopedia. Web. 23 December, 2020.

21-hydroxylase deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/21-hydroxylase-deficiency

21-hydroxylase deficiency is an inherited disorder that affects 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 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.

genetic conditions

References

Bidet M, Bellanné-Chantelot C, Galand-Portier MB, Tardy V, Billaud L, Laborde K, Coussieu C, Morel Y, Vaury C, Golmard JL, Claustre A, Mornet E, Chakhtoura Z, Mowszowicz I, Bachelot A, Touraine P, Kuttenn F. Clinical and molecularcharacterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. JClin Endocrinol Metab. 2009 May;94(5):1570-8. doi: 10.1210/jc.2008-1582.
Gidlöf S, Falhammar H, Thilén A, von Döbeln U, Ritzén M, Wedell A, NordenströmA. One hundred years of congenital adrenal hyperplasia in Sweden: aretrospective, population-based cohort study. Lancet Diabetes Endocrinol. 2013Sep;1(1):35-42. doi: 10.1016/S2213-8587(13)70007-X.Lancet Diabetes Endocrinol. 2013 Aug;1 Suppl 1:s22.
Huynh T, McGown I, Cowley D, Nyunt O, Leong GM, Harris M, Cotterill AM. Theclinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev. 2009 May;30(2):75-86.
Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylasedeficiency from the Lawson Wilkins Pediatric Endocrine Society and the EuropeanSociety for Paediatric Endocrinology. J Clin Endocrinol Metab. 2002Sep;87(9):4048-53. Review.
Kruse B, Riepe FG, Krone N, Bosinski HA, Kloehn S, Partsch CJ, Sippell WG,Mönig H. Congenital adrenal hyperplasia - how to improve the transition fromadolescence to adult life. Exp Clin Endocrinol Diabetes. 2004 Jul;112(7):343-55. Review.
Marumudi E, Khadgawat R, Surana V, Shabir I, Joseph A, Ammini AC. Diagnosisand management of classical congenital adrenal hyperplasia. Steroids. 2013Aug;78(8):741-6. doi: 10.1016/j.steroids.2013.04.007.
Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenitaladrenal hyperplasia. Endocrinol Metab Clin North Am. 2009 Dec;38(4):699-718. doi:10.1016/j.ecl.2009.08.001. Review.
Witchel SF. Non-classic congenital adrenal hyperplasia. Steroids. 2013Aug;78(8):747-50. doi: 10.1016/j.steroids.2013.04.010.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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