Congenital adrenal hyperplasia.
An autosomal recessive disorder, congenital adrenal hyperplasia, results from a deficiency in the activity of one of the five enzymes required for cortisol biosynthesis. More than 90% of cases are related to deficiency in 21-hydroxylase enzyme activity, which is required for the conversion of 17OH-progesterone to 11-deoxycortisol. Treatment of congenital adrenal hyperplasia consists of steroid replacement to ensure normal growth and reproductive potential.
Hughes
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IA
Department of Paediatrics, University of Cambridge, Level 8, Addenbrooke's Hospital, Cambridge, UK.