Chapter

Congenital adrenal hyperplasia

I.A. Hughes

in Oxford Textbook of Medicine

Published on behalf of Oxford University Press

Published in print May 2010 | ISBN: 9780199204854
Published online November 2011 | e-ISBN: 9780199570973 | DOI: http://dx.doi.org/10.1093/med/9780199204854.003.130702_update_001

Series: Oxford Textbooks

Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia (CAH) results from enzymatic defects in the pathways of adrenal steroidogenesis, with over 90% of cases being due to 21-hydroxylase deficiency caused by autosomal recessive mutations in the CYP21 gene.

Classical presentation—this is in the neonatal period with ambiguous genitalia/virilization of a female infant, with phenotype traditionally subdivided according to the presence (75%) or absence of salt wasting, which in affected males is the sole manifestation (and can, if unrecognized, be life-threatening). Delayed presentations can occur, manifest in women as hirsutism, oligomenorrhoea, and infertility and in men as infertility or testicular adrenal rest tumours....

Chapter.  8340 words.  Illustrated.

Subjects: Clinical Medicine

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