Congenital adrenal hyperplasia (CAH) is a group a rare autosomal recessive disorders characterised by a deficiency on 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 (17-HOP). The main goal in CAH managemengt is to replace deficient steroids in order to prevent adrenal crises and to suppress the abnormal secretion of androgens. In addition to Mineralocorticoid (fludrocortisone), different glucocorticoids can be used i.e. prednisolone, dexamethazone but more commonly hydrocotisome twice or thrice a day is used. However, the adequate and balanced replacement therapy with glucocorticoid is sometimes difficult to obtain. This is because of number of factors such as patient tolerance, adverse effects and drugs pharmacokinetics.
In this case report, we present a 40 years old lady with a long standing history of congenital adrenal hyperplasia, which failed to be controlled with conventional various modalities and doses of oral glucocorticoid. With good compliance on hydrocortisone 15 mg (morning) and 5 mg (late afternoon) her average 17 HOP was high in the moning at 21 nmol/l and during the day ranged between 2.9 and 4.9 nmol/l. Adjusting hydrocortisone doses and timings could not be tolerated because of significant weight gain and anxiety and difficulty sleeping after the eveing dose. Instead, dexamethasone was tried twice with different doses (0.54 mg a day), but caused depression and intolerenace. The 17 HOP profile on dexamethasone was again significatly high in the morining at 4756 nmol/l.
Using a continuous and variable subcutaneous hydrocortisone infusion via an insulin pump, achieved rapid control of her CAH, attained a normal cortisol circadian and 17 HOP profiles and significantly improved her quality of life. Average daily hydrocortisone dose was 12-17.5 mg/day, which produced on average 24-h serum cortisol and 17-hydroxyprogesterone concentrations of 302.08 and <2.3 nmol/ml, respectively.