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Case Of Congenital Adrenal Hyperplasia Dr Y. Mahgoub, Dr G. Cuthbert, Dr D. Kalathil, G. Morrison, Dr T. Purewal Endocrinology & Diabetes department, Royal Liverpool University Hospital, Liverpool, UK Introduction Congenital adrenal hyperplasia (CAH) is a group of a rare autosomal recessive disorders characterised by a deficiency of one of the enzymes necessary for cortisol biosynthesis. More than 90% of CAH is caused by mutations or deletions in cytochrome P450 21-hydroxylase gene. Impaired glucocorticoid synthesis results in chronic elevation of ACTH causing adrenal hyperplasia and accumulation of steroid precursors such as 17 hydroxyprogesterone (17OHP) (1). The main goal in CAH management is to replace deficient steroids in order to prevent adrenal crisis and to suppress the abnormal secretion of androgens. In addition to mineralocorticoid (fludrocortisone), different glucocorticoids can be used i.e.. prednisolone, dexamethasone or hydrocortisone twice or thrice a day is used. However, adequate and balanced replacement therapy with glucocorticoid is sometimes difficult to obtain. This is because of a number of factors such as patient tolerance, adverse effects and drugs pharmacokinetics and bioavailability (2).

Successful use of subcutaneous infusion of cortisol in an adult case of congentital adrenal hyperplasia