Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to multiple complex hormonal imbalances caused by various enzyme deficiencies in the …
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone …
The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of …
PC White, TASS Bachega - Seminars in reproductive medicine, 2012 - thieme-connect.com
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. Affected patients cannot synthesize …
E Charmandari, CG Brook… - European journal of …, 2004 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal …
PW Speiser, PC White - New England Journal of Medicine, 2003 - Mass Medical Soc
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The …
CM Trapp, SE Oberfield - Steroids, 2012 - Elsevier
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders. 21- Hydroxylase deficiency, in which there are mutations in CYP21A2 (the gene encoding the …
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …
TS Han, BR Walker, W Arlt, RJ Ross - Nature Reviews Endocrinology, 2014 - nature.com
Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by defective steroidogenesis that results in glucocorticoid deficiency; the most common underlying …