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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.

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date: 27 September 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 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....

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