Congenital adrenal hyperplasia adults

Congenital adrenal hyperplasia (CAH) is a group of inherited conditions affecting the adrenal glands' ability to produce certain essential hormones, most commonly cortisol, due to a deficiency in a specific enzyme needed for hormone production. This leads to a build-up of precursor hormones, which can cause excess androgen (male-type hormone) production, alongside the underlying cortisol deficiency. It is usually diagnosed in childhood, but this covers how it's managed in adulthood.

Adults with CAH need lifelong hormone replacement (typically corticosteroids) to correct the underlying cortisol deficiency and control excess androgen levels, and can face ongoing issues including managing hormone treatment during illness or stress, fertility considerations, and long-term monitoring for complications such as adrenal tumours or issues related to longstanding hormone imbalance. Women with CAH may have additional considerations relating to reproductive health. Comprehensive, ongoing specialist endocrinology care is important throughout adulthood.

It is caused by inherited genetic mutations, most commonly affecting an enzyme called 21-hydroxylase, needed for normal cortisol (and in some forms, other hormone) production by the adrenal glands. It is inherited in an autosomal recessive pattern, meaning both parents carry one copy of the altered gene without necessarily having the condition themselves. Genetic testing can confirm the diagnosis and clarify the specific mutation involved.

During illness, injury, surgery, or significant physical stress, the body normally increases its own cortisol production to cope, but people with CAH cannot do this naturally due to their underlying deficiency, so they need to increase their replacement medication dose temporarily during these times (known as stress dosing) to avoid a potentially dangerous adrenal crisis. Understanding when and how to adjust medication during illness is a critical, sometimes life-saving, part of ongoing CAH management. Your endocrinology team will provide clear, specific guidance on this for your individual situation.

Management involves lifelong corticosteroid replacement therapy, carefully balanced to control androgen excess without over- or under-treating cortisol deficiency, along with regular endocrinology monitoring, attention to stress dosing during illness, and, for women, gynaecological input regarding fertility and reproductive health as relevant. Bone health monitoring is also often part of long-term care given the effects of long-term steroid treatment. This requires ongoing, coordinated specialist care throughout adult life.

Adults with CAH should be under ongoing endocrinology follow-up throughout life; if you're not currently under specialist care, or haven't been reviewed recently, arrange this. NHS endocrinology referral can take several weeks; a private consultation is typically available within about 2 weeks for earlier specialist assessment.