What is the treatment for Congenital Adrenal Hyperplasia (CAH)?

From the Guidelines

Treatment for congenital adrenal hyperplasia (CAH) primarily involves glucocorticoid replacement therapy, typically with hydrocortisone at doses of 10-15 mg/m² per day divided into 2-3 doses, as well as mineralocorticoid replacement with fludrocortisone (0.05-0.2 mg daily) for salt-wasting forms of CAH. For children, dosing is weight-based, usually starting at 10-20 mg/m² per day 1. Mineralocorticoid replacement with fludrocortisone is necessary to control electrolyte imbalance and blood pressure. Sodium chloride supplements (1-2 g daily divided into several doses) may be needed for infants with salt-wasting CAH.

Key Considerations

• Treatment must be lifelong and requires regular monitoring of hormone levels, growth, and development 1.
• During times of illness, stress, or surgery, stress dosing of glucocorticoids (typically 2-3 times the maintenance dose) is essential to prevent adrenal crisis.
• The goal of treatment is to replace deficient hormones while minimizing excess androgen production, which can cause virilization in females and precocious puberty in both sexes.
• Regular follow-up with an endocrinologist is crucial to adjust medication doses as needed, especially during periods of growth, puberty, and pregnancy.
• Surgical correction may be considered for females with genital ambiguity, though this remains controversial and is increasingly deferred until the individual can participate in decision-making.

Management of Adrenal Crisis

• Adrenal crisis should be treated immediately with iv or im hydrocortisone, 100 mg followed by 100 mg 6–8 hourly until recovered 1.
• Isotonic (0.9%) sodium chloride solution should usually be administered, at an initial rate of 1 L h1 until haemodynamic improvement.
• The underlying precipitant of adrenal crisis (e.g. infection) should be sought, once treatment has been initiated.

Patient Education

• Patients should wear a Medic Alert Bracelet and carry a steroid card to inform medical personnel on chronic PAI status 1.
• Education on how to increase steroid doses during concurrent illnesses or injury is important, as well as training in intramuscular administration of hydrocortisone during acute adrenal crisis.

From the FDA Drug Label

Congenital adrenal hyperplasia.

Treatment for congenital adrenal hyperplasia may include dexamethasone, as it is listed under the indications for use.

• The drug label does mention congenital adrenal hyperplasia as one of the conditions for which dexamethasone may be used.
• However, it is essential to note that the label also mentions that hydrocortisone or cortisone is the drug of choice for primary or secondary adrenocortical insufficiency, and mineralocorticoid supplementation is of particular importance in infancy.
• Therefore, dexamethasone may be used as part of the treatment for congenital adrenal hyperplasia, but it is crucial to consider the specific needs of each patient and the potential requirement for additional therapies, such as mineralocorticoid supplementation 2.

From the Research

Treatment Options for Congenital Adrenal Hyperplasia

• The primary treatment for congenital adrenal hyperplasia (CAH) involves replacing glucocorticoids with oral glucocorticoids, such as prednisolone and hydrocortisone, to suppress adrenocorticotrophic hormones and replace mineralocorticoids to prevent salt wasting 3.
• The treatment aims to prevent adrenal crises, achieve normal stature, optimal adult height, and normal puberty in children, while in adults, it aims to prevent adrenal crises, ensure normal fertility, and avoid the long-term consequences of glucocorticoid use 3.
• Current glucocorticoid treatment regimens cannot optimally replicate the normal physiological cortisol level, and over-treatment or under-treatment is often reported 3.

Novel Therapies and Treatment Paradigms

• Novel therapies are being developed to address the chronic glucocorticoid overexposure, lack of circadian rhythm in glucocorticoid replacement, and inefficient glucocorticoid delivery with concomitant periods of hyperandrogenism 4.
• Synthetic glucocorticoids instead of hydrocortisone do not increase mineralocorticoid needs in adult patients with salt-wasting CAH 5.
• New treatment paradigms, including non-GC therapies, aim to reduce excess androgens and allow for lower GC doses, potentially decreasing the GC-related burden of the disease 6.

Management and Interventions

• Glucocorticoid therapy remains the first line of management in CAH, with supplemental therapies attempting to address CAH-associated morbidity, although long-term efficacy and safety data are still lacking 7.
• Interventions target an improvement in physiological glucocorticoid replacement, adult height outcome, and management of female genital virilization in CAH 7.
• Treatment will always require joint decision-making between physicians and patients, with the potential for new CAH medications and non-GC therapies to improve treatment outcomes 6.