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n Obstetrics and Gynaecology Forum - Congenital adrenal hyperplasia : review article

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Abstract

Congenital adrenal hyperplasia develops secondary to inherited enzyme defects in adrenal steroidogenesis. Feedback from deficient cortisol production causes the pituitary gland to secrete increased ACTH (adrenocorticotropin), with consequent enhanced adrenal stimulation and development of hyperplasia of the adrenal glands. The syndrome occurs in 1 / 5 000 to 1 / 10 000 births and early diagnosis is important, as severe metabolic disturbances in some forms of the condition may lead to demise of the newborn infant. Early treatment is also important to prevent developmental abnormalities. Incomplete enzyme defects may present postnatally or at puberty when increased adrenal activity reveals the enzyme abnormalities.

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/content/medog/12/2/EJC73143
2002-05-01
2016-12-09
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