Congenital adrenal hyperplasia
From Ganfyd
Web Resources for Congenital adrenal hyperplasia
ICD 10 code: E25
Relevant Clinical Literature
UK Guidance
Other Wikis
Medpedia on Congenital adrenal hyperplasia (Less technical, good quality control)
Wikipedia on Congenital adrenal hyperplasia (Less technical, ? quality control)
An umbrella term for several autosomal recessive disorders caused by a deficiency in one of the enzymes required in steroid metabolism to produce cortisol.
Underactive CYP21 (21-hydroxylase) is one of the more common enzymes, but 11-beta-hydroxylase, 17-alpha-hydroxylase and several other enzymes can also be affected.
The clinical manifestations (i.e. phenotype) depends on the exact mutation and the enzyme affected. Cortisol deficiency results in features of mineralcorticoid and glucocorticoid deficiency. In the absence of cortisol, feedback mechanism stimulate increased production of the cortisol precursors, which accumulate and produce effects of adrenocorticoid excess effects and can cause virilisation of girls.
