Management of congenital adrenal hyperplasia at the transition

What is it about?

This article aims to provide a simple clinical approach to understanding and managing steroid supplementation in the young adult and adult patient with classic 21-hydroxylase congenital adrenal hyperplasia (21OHP). It aims to overcome the clinical inertia that leads to glucocorticoid excess in these patients, particularly addressing the adult endocrinologist at the transition when they meet patient with 21OHP with fresh eyes.

Featured Image

Why is it important?

Glucocorticoid overreplacement is common in individuals with classic 21-hydroxylase congenital adrenal hyperplasia (17OHP) (ref). Guidelines that exist for treatment of 21OHP (Ishii et al. Clin Pediatr Endocrinol 2022, Speiser et al. JCEM 2018) state that there is no evidence-based data to guide therapy and no expert consensus, so a wide range is given for glucocorticoid and mineralocorticoid doses. There is a transition in priorities from growth optimization and avoiding pre-pubertal virilization to a focus on fertility, bone health and minimising cardiovascular risk. The guidelines do not emphasise the peak in glucocorticoid requirement at puberty which then reduces in young adulthood, or the reducing mineralocorticoid requirement with age. The guidelines do not explicitly state the potential for overtreatment if classical biochemical markers are used, acknowledging the dominance of 11-oxysteroids in androgen action, particularly in the woman with 21OHP. The endocrinologist who encounters this condition less commonly may be tempted into persisting with existing steroid doses.

Perspectives