Further information on the effects of adrenal androgens during puberty can be found here. These are largely responsible for the normal development of sexual characteristics during puberty. These androgens are released into the bloodstream and transported to gonads where they are converted into testosterone or oestrogen. The zona reticularis is the site of biosynthesis of androgen precursors such as dehydroepiandrosterone (DHEA) and androstenedione from cholesterol. Finally, long-term follow-up is necessary and eventually genetic counselling, as these conditions are inherited. This allows normalisation of the androgen levels. Treatment requires the replacement of the missing glucocorticoids and mineralocorticoids, as well as suppression of ACTH. Babies born with CAH will show high levels of testosterone, androstenedione and ACTH. It may present as a milder form in later life, however, in an acute situation, urgent confirmation is needed. This results in a lack of mineralocorticoids and glucocorticoids, as well as an excess of testosterone and its derivatives. There is typically a mutation in an enzyme mediating one of the steps necessary in the production of mineralocorticoids or glucocorticoids from cholesterol. Clinical Relevance – Congenital Adrenal HyperplasiaĬongenital adrenal hyperplasia (CAH) can result from one of several autosomal recessive diseases.
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