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Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.
Endocrinol Metab Clin North Am. 2009 Dec; 38(4):699-718.EM

Abstract

Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied.

Authors+Show Affiliations

Mount Sinai School of Medicine, New York, NY 10029, USA.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

19944288

Citation

Nimkarn, Saroj, et al. "Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia." Endocrinology and Metabolism Clinics of North America, vol. 38, no. 4, 2009, pp. 699-718.
Nimkarn S, Lin-Su K, New MI. Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2009;38(4):699-718.
Nimkarn, S., Lin-Su, K., & New, M. I. (2009). Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics of North America, 38(4), 699-718. https://doi.org/10.1016/j.ecl.2009.08.001
Nimkarn S, Lin-Su K, New MI. Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia. Endocrinol Metab Clin North Am. 2009;38(4):699-718. PubMed PMID: 19944288.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia. AU - Nimkarn,Saroj, AU - Lin-Su,Karen, AU - New,Maria I, PY - 2009/12/1/entrez PY - 2009/12/1/pubmed PY - 2010/2/6/medline SP - 699 EP - 718 JF - Endocrinology and metabolism clinics of North America JO - Endocrinol Metab Clin North Am VL - 38 IS - 4 N2 - Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency. The three forms of CAH are then discussed in terms of clinical presentation, diagnosis and treatment, and genetic basis. Prenatal diagnosis and treatment are also reviewed. The goal of therapy is to correct the deficiency in cortisol secretion and suppress androgen overproduction. Glucocorticoid replacement has been the mainstay of treatment for CAH, but new treatment strategies continue to be developed and studied. SN - 1558-4410 UR - https://www.unboundmedicine.com/medline/citation/19944288/Steroid_21_hydroxylase_deficiency_congenital_adrenal_hyperplasia_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0889-8529(09)00076-0 DB - PRIME DP - Unbound Medicine ER -