Congenital adrenal hyperplasia

Definition:

Congenital adrenal hyperplasia (CAH) is a group of monogenic autosomal recessive disorders due to an enzyme deficiency in steroid biosynthesis. All the adrenal hyperplasia syndromes are examples of mixed hypo- and hyperadrenocorticism.

References:

[1]. Cem Demirci, et al. Congenital adrenal hyperplasia. Dermatol Ther. 2008 Sep-Oct;21(5):340-53. [Content Brief]

[2]. Evangelia Charmandari, et al. Classic congenital adrenal hyperplasia and puberty. Eur J Endocrinol. 2004 Nov;151 Suppl 3:U77-82. [Content Brief]

[3]. Karen Lin-Su, et al. Congenital adrenal hyperplasia in adolescents: diagnosis and management. Ann N Y Acad Sci. 2008;1135:95-8. [Content Brief]

[4]. L Williamson, et al. Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. Am J Med Genet A. 2006 Sep 1;140A(17):1797-803. [Content Brief]

[5]. Phyllis W Speiser, et al. Congenital adrenal hyperplasia. N Engl J Med. 2003 Aug 21;349(8):776-88. [Content Brief]

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