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Congenital Adrenal Hyperplasia
This document discusses congenital adrenal hyperplasia (CAH), a group of autosomal recessively inherited disorders associated with deficiencies in enzymes involved in cortisol biosynthesis. This results in elevated ACTH levels and overproduction of cortisol precursors. The document outlines the steroidogenesis pathway and the enzymes and genes involved in CAH, including 17α-hydroxylase, 21α-hydroxylase, 11β-hydroxylase, and 18-oxidase. It describes the different forms of CAH, including salt-losing/classical CAH, simple virilizing/non-salt losing CAH, and non-classical/late CAH. The clinical manifestations, diagnosis, and management of C
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Congenital Adrenal Hyperplasia
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- 9. “A group ofautosomal recessively inherited disorders associated with a deficiency of one of the enzymes involved in cortisol biosynthesis, resulting in elevation of ACTH levels and overproduction and accumulation of cortisol precursors.”
- 10. ENZYMES GENES INVOLVED 17 alphahydroxylase 21 alpha hydroxylase 11 beta hydroxlase 18 oxidase CYP17A CYP21A CYP11B1 CYP11B2
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- 14. SALT LOSING/ CLASSICAL CAH SIMPLE VIRILISING/NON SALT LOSING CAH NON CLASSICAL/ LATE CAH
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- 17. D I A G N O S I S investigation Imaging studies CTscanning Pelvic ultrasonograpy Urogenitography Examination of genitals Urinary tests Blood tests Harmonal tests Other tests Karyotype Genetic testing
- 19. • Diet • Medication •Surgery REFER for further details: http://emedicine.medscape.com/article/919218-overview
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