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Congenital adrenal hyperplasia 

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia

I.A. Hughes



Aetiology and biochemistry—description of new mutations. Reference to the ‘backdoor’ pathway to androgen production now identified in the human fetus and operating for the first year of life.

Treatment—emphasisis that prenatal treatment with maternal dexamethasone may affect gender role behaviour in boys exposed in utero and hence remains experimental and should only be undertaken in the context of clinical trials.

Discussion of use of modified release formulations of glucocorticoids.

Clinical features in the adult—health status review reveals a catalogue of ill-health and reduced quality of life, with patchy attendance at specialized endocrine centres.

Discussion of pregnancy rate.

Updated on 30 Nov 2011. The previous version of this content can be found here.
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date: 30 March 2017

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.

Biochemical diagnosis—in the newborn this is made on the basis of an elevated plasma concentration of 17-OH progesterone; the diagnosis of late-onset CAH requires an ACTH stimulation test, with confirmation by sequencing of the CYP21 gene for specific mutations.

Management—this requires glucocorticoid and mineralocorticoid replacement sufficient to replenish salt balance and suppress 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 CAH. Men with CAH should be screened for testicular adrenal rest tumours after puberty, and semen preservation should be considered in young adulthood. Genetic testing of the index case, their partner, and fetus allows prevention of major congenital malformation in an affected female infant by maternal treatment with dexamethasone during pregnancy.

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