From the Guidelines
Adrenal hyperplasia requires prompt diagnosis and treatment to prevent adrenal crisis and ensure normal growth and development, with the most common form being congenital adrenal hyperplasia (CAH) typically diagnosed in infancy or childhood and treated with glucocorticoid replacement therapy, usually with hydrocortisone at 10-15 mg/m² daily divided into 2-3 doses, as recommended by recent guidelines 1. The condition results from genetic mutations affecting enzymes in the cortisol synthesis pathway, most commonly 21-hydroxylase deficiency, leading to cortisol deficiency and often excess androgen production, which can cause virilization in females and precocious puberty in males. Key aspects of treatment include:
- Glucocorticoid replacement therapy with hydrocortisone at 10-15 mg/m² daily divided into 2-3 doses
- Mineralocorticoid replacement with fludrocortisone (0.05-0.2 mg daily) for salt-wasting forms
- Lifelong hormone replacement
- Emergency medical identification
- Stress dosing during illness or surgery, typically tripling the usual glucocorticoid dose
- Regular monitoring of hormone levels, growth in children, and bone health, as outlined in guidelines for the management of glucocorticoids during the peri-operative period for patients with adrenal insufficiency 1. It is essential to note that early diagnosis and consistent treatment are crucial to prevent adrenal crisis and ensure normal growth and development, and patients with primary adrenal insufficiency should be reviewed at least annually, with assessment of health and well-being, measurement of weight, blood pressure and serum electrolytes, as recommended by consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency 1.
From the FDA Drug Label
Congenital adrenal hyperplasia The answer is: Dexamethasone (PO) and Prednisone (PO) are indicated for the treatment of Congenital adrenal hyperplasia 2 3.
- Key points:
- Dexamethasone and Prednisone are synthetic analogs that may be used in conjunction with mineralocorticoids.
- Mineralocorticoid supplementation is of particular importance in infancy.
From the Research
Adrenal Hyperplasia Overview
- Adrenal hyperplasia, also known as congenital adrenal hyperplasia (CAH), is an autosomal recessive condition that leads to glucocorticoid deficiency and is the most common cause of adrenal insufficiency in children 4.
- The most common cause of CAH is 21-hydroxylase enzyme deficiency, which is caused by mutations in the 21-hydroxylase gene 4.
Treatment of Adrenal Hyperplasia
- The standard treatment for CAH involves replacing glucocorticoids with oral glucocorticoids, such as hydrocortisone and prednisolone, suppressing adrenocorticotrophic hormones, and replacing mineralocorticoids to prevent salt wasting 4, 5.
- The goal of treatment in children is to prevent adrenal crises, achieve normal stature, optimal adult height, and undergo normal puberty, while in adults, the goal is to prevent adrenal crises, ensure normal fertility, and avoid the long-term consequences of glucocorticoid use 4.
- Current glucocorticoid treatment regimens can not optimally replicate the normal physiological cortisol level, and over-treatment or under-treatment is often reported 4.
Glucocorticoid Replacement Regimens
- Different glucocorticoid replacement regimens have been compared in terms of their efficacy and safety in treating CAH due to 21-hydroxylase deficiency in children and adults 4, 6.
- Hydrocortisone is the most commonly used glucocorticoid replacement therapy, but other options such as prednisolone and dexamethasone are also used 4, 6.
- The choice of glucocorticoid replacement regimen should be based on individual patient factors, as there is no significant difference between hydrocortisone and prednisolone therapy 6.
Novel Treatment Strategies
- Novel modified release glucocorticoid therapies and 24-hour circadian continuous subcutaneous infusion of hydrocortisone are being developed to improve the treatment of CAH 5, 7.
- These new therapies aim to decrease adrenal androgen production and improve outcomes for patients with CAH, but their long-term effects are unknown and require further study 5, 7.