What is Congenital Adrenal Hyperplasia (CAH)?

From the Guidelines

Adrenal hyperplasia requires prompt diagnosis and treatment with glucocorticoid replacement therapy to prevent adrenal crisis and long-term complications. The most common form of adrenal hyperplasia is congenital adrenal hyperplasia (CAH), which affects approximately 1 in 15,000 live births 1. Treatment for CAH typically involves hydrocortisone as the first-line medication, with doses ranging from 10-15 mg/m² per day divided into 2-3 doses.

Key Considerations

• For adults, alternative glucocorticoids such as prednisone (3-5 mg daily) or dexamethasone (0.25-0.5 mg daily) may be used 1.
• Mineralocorticoid replacement with fludrocortisone (0.05-0.2 mg daily) is often necessary in salt-wasting forms of CAH.
• Regular monitoring of hormone levels, growth in children, and bone density is crucial to prevent long-term complications such as infertility, osteoporosis, and metabolic disorders.
• Stress dosing during illness or surgery is critical, typically requiring 2-3 times the normal dose to prevent adrenal crisis.

Management and Prevention

• Patients with adrenal hyperplasia should wear medical alert identification and carry emergency hydrocortisone for injection in case of severe illness or trauma.
• The goal of treatment is to replace deficient hormones while minimizing excess androgen production, allowing for normal growth and development in children and reducing the risk of long-term complications.
• It is essential to note that all steroid-dependent patients, including those with adrenal hyperplasia, are at risk of adrenal crisis 1, highlighting the importance of careful management and monitoring.

From the Research

Adrenal Hyperplasia Overview

• Adrenal hyperplasia, also known as congenital adrenal hyperplasia (CAH), is a genetic disorder that affects the adrenal glands [ 2 ].
• CAH is caused by a deficiency of the 21-hydroxylase enzyme, which is necessary for the production of cortisol and aldosterone [ 3 ].
• The condition can lead to a range of symptoms, including adrenal insufficiency, salt wasting, and an overproduction of androgens [ 4 ].

Treatment Options

• The primary treatment for CAH is glucocorticoid replacement therapy, which aims to replace the lacking cortisol and aldosterone [ 3 ].
• Different glucocorticoid replacement regimens are available, including hydrocortisone, prednisolone, and dexamethasone [ 3 ].
• Novel treatments, such as modified-release hydrocortisone and continuous subcutaneous infusion of hydrocortisone, are being developed to improve the management of CAH [ 4 ].
• These new treatments aim to replicate the natural cortisol rhythm and reduce the risk of long-term complications, such as gonadal dysfunction and cardiovascular disease [ 5 ].

Management of Adrenal Crisis

• Adrenal crisis is a life-threatening condition that requires immediate treatment with glucocorticoids and fluid replacement [ 6 ].
• The management of adrenal crisis involves stress adaptation and the use of emergency glucocorticoid kits [ 6 ].
• European Reference Networks on rare endocrine conditions aim to harmonize treatment and ensure access to specialized patient care for individual case-by-case treatment decisions [ 6 ].