From the Guidelines
Congenital Adrenal Hyperplasia (CAH) is primarily caused by genetic mutations that affect enzymes involved in cortisol production, with 21-hydroxylase deficiency accounting for over 90% of cases. The standard treatment for CAH involves lifelong glucocorticoid replacement therapy, typically with hydrocortisone at doses of 10-15 mg/m² per day divided into 2-3 doses 1. For salt-wasting forms of CAH, mineralocorticoid replacement with fludrocortisone (0.05-0.2 mg daily) is also necessary, along with sodium supplementation (1-2 g daily) especially in infants. Treatment aims to replace deficient hormones while suppressing excess androgen production that causes virilization and growth problems.
Key Considerations
- Dosing must be carefully individualized based on clinical response, growth parameters, and hormone levels 1.
- Stress dosing (typically tripling the usual dose) during illness, surgery, or significant physical stress is crucial to prevent adrenal crisis.
- Regular monitoring of growth, bone age, blood pressure, and hormone levels is essential for optimal management.
- Early diagnosis and consistent treatment help prevent life-threatening adrenal crises and minimize the long-term complications of the condition.
Management Principles
- Patients with CAH require lifelong steroid replacement, both glucocorticoids and mineralocorticoids, and often an increased intake of sodium chloride to compensate for increased renal loss 1.
- Education on how to increase steroid doses during concurrent illnesses or injury is important, as well as training in intramuscular administration of HC during acute adrenal crisis.
- Patients should wear a Medic Alert Bracelet and carry a steroid card to inform medical personnel on chronic CAH status.
From the Research
Cause of Congenital Adrenal Hyperplasia (CAH)
- CAH is a group of autosomal recessive disorders of adrenal steroidogenesis caused by a genetic disorder in one of the steroidogenic enzymes 2.
- The primary cause of CAH is a deficiency in one of the enzymes involved in cortisol synthesis, with 21-hydroxylase deficiency being the most common form, accounting for about 90% of all cases 2, 3.
- 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene, which encodes the 21-hydroxylase enzyme 3, 4.
- Other rare types of CAH include 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase deficiency 2, 5.
Treatment of Congenital Adrenal Hyperplasia (CAH)
- The treatment of classical CAH involves replacing both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin 6.
- Glucocorticoid therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization 6.
- Hydrocortisone is used for glucocorticoid replacement, along with increased stress doses for acute illness, trauma, and procedures 6, 5.
- Mineralocorticoid and salt replacement may also be necessary in some cases 5.