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Congenital adrenal hyperplasia 

Congenital adrenal hyperplasia
Congenital adrenal hyperplasia

Nils P. Krone

, and Ieuan A. Hughes

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date: 02 March 2021

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 CYP21A2 gene. Management requires glucocorticoid and mineralocorticoid replacement sufficient to replenish salt balance and control ACTH hyperstimulation without incurring steroid side effects. In the adolescent and young adult, attention is focused on continuing optimal steroid replacement, with clinical endpoints being potential reproductive function rather than linear growth. Fertility in women is compromised by scarring effects of surgery following genitoplasty in childhood, inadequate adrenal suppression that leads to anovulation, and an overall reduced maternal desire in women with congenital adrenal hyperplasia. Men with congenital adrenal hyperplasia should be screened for testicular adrenal rest tumours after puberty, and semen preservation should be considered in young adulthood.

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