Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a group of disorders caused by defects in one of the enzymes in the adrenal steroidigenic pathways. The most common form is 21-hydroxylase deficiency which leads to decreased production of cortisol and aldosterone and increased androgen production. Close monitoring of treatment is important so that adrenal suppression is achieved without excessive exposure to glucocorticoids. The current gold standard for monitoring in CAH is use of clinical parameters including height and bone age. Biochemical markers such as androstenedione, 17-hydroxyprogesterone (17-OHP) and testosterone can be used alongside clinical measurements in monitoring. We assessed the utility of different biochemical markers, particularly focussing on the feasibility of using testosterone as a biochemical marker in monitoring CAH.

Methods: Literature search and analysis of studies relating to monitoring CAH. Only studies relating to ‘classical’ CAH and 21-hydroxylase deficiency were included.

Conclusion: Monitoring of therapy in CAH is important in order to avoid the unwanted complications resulting from high androgen levels. Currently capillary blood spot 17-OHP levels are used alongside clinical parameters in monitoring. Testosterone concentrations can be measured accurately using liquid chromatography–tandem mass spectrometry (LC–MS/MS) and this method is suitable for routine clinical use. Further work is required to refine the technique for using capillary samples for testosterone quantification using LC–MS/MS in order for it to be used routinely in monitoring CAH.