Long‐term health consequences of congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) caused by 21‐hydroxylase deficiency accountsfor 95% of all CAH cases and is one of the most common inborn metabolicconditions. The introduction of life‐saving glucocorticoid replacement therapy 70years ago has changed the perception of CAH from a paediatric disorder into alifelong, chronic condition affecting patients of all age groups. Alongside healthproblems that can develop during the time of paediatric care, there is an emergingbody of evidence suggesting an increased risk of developing co‐morbidities duringadult life in patients with CAH. The mechanisms that drive the negative long‐termoutcomes associated with CAH are complex and involve supraphysiologicalreplacement therapies (glucocorticoids and mineralocorticoids), excess adrenalandrogens both in the intrauterine and postnatal life, elevated steroid precursorsand adrenocorticotropic hormone levels. Alongside a review of mortality outcome,we discuss issues that need to be addressed when caring for the CAH patientincluding female and male fertility, cardio‐metabolic morbidity, bone health andother important long‐term outcomes of CAH.