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

From the Guidelines

The treatment for Congenital Adrenal Hyperplasia (CAH) primarily involves lifelong glucocorticoid and mineralocorticoid replacement therapy. Patients typically receive oral hydrocortisone (10-15 mg/m²/day divided into 2-3 doses) to replace cortisol and suppress excess androgen production, as seen in patients with primary adrenal insufficiency 1. For mineralocorticoid replacement, fludrocortisone (0.05-0.2 mg daily) is prescribed to maintain normal sodium and potassium levels. During times of illness, surgery, or stress, glucocorticoid doses must be increased 2-3 fold to prevent adrenal crisis, with hydrocortisone doses potentially reaching 100 mg bolus followed by 100–300 mg day¹ as continuous infusion or frequent intravenous or intramuscular boluses every 6 h 1. Infants with salt-wasting CAH may initially need sodium chloride supplements (1-2 g daily divided into several feedings).

Key Considerations

• Regular monitoring of blood pressure, growth, bone age, and hormone levels (17-hydroxyprogesterone, androstenedione, renin) is essential to adjust medication dosages.
• For females with virilization, surgical correction may be considered.
• The goal of treatment is to replace deficient hormones while preventing overtreatment, which can lead to cushingoid features, growth suppression, and metabolic complications.
• Treatment must be individualized and adjusted throughout life as the patient's needs change from childhood through adulthood.
• Annual consultations should include questions regarding family relationships, professional duties, self-esteem, and possible complaints due to CAH, as well as questions about the quality of daily replacement therapy, self-medication during intercurrent illness, and previous adrenal crises 1.

From the FDA Drug Label

DOSAGE & ADMINISTRATION Dosage depends on the severity of the disease and the response of the patient. In the event transient hypertension develops as a consequence of therapy, the dose should be reduced to 0.05 mg daily. Salt-Losing Adrenogenital Syndrome The recommended dosage for treating the salt-losing adrenogenital syndrome is 0.1 mg to 0.2 mg of fludrocortisone acetate tablets daily. INDICATIONS & USAGE Fludrocortisone acetate tablets, 0.1 mg are indicated as partial replacement therapy for primary and secondary adrenocortical insufficiency in Addison’s disease and for the treatment of salt-losing adrenogenital syndrome.

The treatment for Congenital Adrenal Hyperplasia (CAH), specifically the salt-losing adrenogenital syndrome, is fludrocortisone acetate tablets at a recommended dosage of 0.1 mg to 0.2 mg daily 2.

• The dosage depends on the severity of the disease and the response of the patient.
• Fludrocortisone acetate tablets are indicated for the treatment of salt-losing adrenogenital syndrome 2.

From the Research

Treatment Overview

The treatment for Congenital Adrenal Hyperplasia (CAH) typically involves hormone replacement therapy to compensate for the deficiency of glucocorticoids and mineralocorticoids, as well as to suppress androgen excess 3, 4.

Medications Used

• Hydrocortisone is commonly used for glucocorticoid replacement in children with CAH, with the dosage varying based on age and disease severity 5.
• Fludrocortisone may also be administered to patients with CAH, particularly those with salt-wasting phenotype 5.
• Modified-release hydrocortisone (MR-HC) has been investigated as a potential treatment option to improve disease control by mimicking physiologic cortisol secretion 6.

Treatment Goals

The primary goals of treatment for CAH include:

• Controlling androgen excess
• Preventing adrenal crises
• Promoting normal growth and development
• Managing long-term complications, such as cardiometabolic risk factors and impaired cognitive function 3, 4.

Special Considerations

• Children with CAH may require increased stress doses of hydrocortisone during acute illness, trauma, or procedures 3.
• Patients with CAH may also require psychosocial support and surgical considerations, particularly those with genital differences 7.
• Treatment challenges may arise in special situations, such as during puberty or in patients with complex medical histories 7.

Ongoing Management

Ongoing management of CAH involves regular monitoring of anthropometric and laboratory measures, as well as adjustments to treatment as needed to optimize disease control and minimize long-term complications 3, 7.