Congenital Adrenal Hyperplasia

Vijayakumar Madhava
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Congenital Adrenal Hyperplasia - Abstract
Congenital adrenal hyperplasia comprises of a group of autosomal recessive disorders characterised by enzyme blocks at various levels of adrenal steroid synthesis resulting in decreased production of adrenal hormones, mainly cortisol and aldosterone. the substrates which accumulate proximal to the the defective enzyme leads to excess production of sex steroids. 21 hydroxylase deficiency constitute about 95% of CAH and classic forms present in the neonatal period. They require life long supplementation with hydrocortisone and majority ( salt wasting form) require fludrocortisone also. Neonatal screening program helps in early detection of these cases. Antenatal treatment with steroids are experimental at present.

Table 1: Pathways of steroid biosynthesis


Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders which block the pathway of adrenal steroidogenesis at various steps. This condition creates adrenal insufficiency (defective production of glucocorticoids and mineralocorticoids). In response to adrenal insufficiency, pituitary gland produces increased amount of ACTH and POMC which stimulate the steroidogenesis pathway. This process results in hypertrophy and hyperplasia of adrenal glands, hence these conditions are collectively called as congenital adrenal hyperplasia. The accumulated steroid precursors proximal to the block are converted to sex steroids. Clinical features of these groups of disorders arise from the deficiency of the steroid end products (mineralocorticoids and glucocorticoids) and also from the accumulating precursors proximal to the blocked step and their end products, formed due to the activation of alternate pathway. Main types of CAH are lipoid CAH, 3ß hydroxyl steroid dehydrogenase deficiency (3?HSD), 17- a hydroxylase deficiency, 21 hydroxylase deficiency and 11ß hydroxylase deficiency. 21 hydroxylase deficiency constitute 95% of all cases of CAH, followed by 11-ß hydroxylase deficiency (4%). Other conditions are relatively rare.


References
Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia 03/18/2016
21 Hydroxylase Deficiency >>
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