What is the recommended treatment for congenital adrenal hyperplasia (CAH)?

From the Guidelines

The recommended treatment for congenital adrenal hyperplasia (CAH) involves gender assignment as early as possible, preferentially within the first few weeks of life, with female gender assignment warranted in newborns with ambiguous genitalia secondary to CAH, along with feminizing genitoplasty within the first 2 months of life to ensure the appearance of the external genitalia is consistent with the female sex of rearing. This approach is based on the understanding that individuals with CAH have the potential for normal sexual function and fertility if gender assignment is made early in life 1. The treatment aims to address the hormonal and anatomical aspects of CAH, with the goal of improving quality of life and minimizing potential complications.

Key aspects of treatment include:

• Rapid detailed investigations to evaluate chromosomal gonadal sex, hormonal environment, and anatomy of the external and internal genital organs
• Gender assignment as early as possible, with female gender assignment recommended for newborns with ambiguous genitalia secondary to CAH
• Feminizing genitoplasty within the first 2 months of life to ensure the appearance of the external genitalia is consistent with the female sex of rearing
• Adrenal suppressive medication to maintain low androgen levels and prevent further masculinization of the nervous system, as individuals with CAH who want to change their gender to male often have been discovered in late infancy or childhood, or have not been receiving consistent adrenal suppressive medication since birth 1.

It is essential to note that treatment should be individualized and managed by an endocrinologist, with careful monitoring to avoid potential complications and ensure the best possible outcomes in terms of morbidity, mortality, and quality of life.

From the FDA Drug Label

INDICATIONS AND USAGE Congenital adrenal hyperplasia

DOSAGE & ADMINISTRATION 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.

The recommended treatment for congenital adrenal hyperplasia (CAH) includes:

• Fludrocortisone for mineralocorticoid replacement, with a dosage of 0.1 mg to 0.2 mg daily for salt-losing adrenogenital syndrome 2
• Glucocorticoids such as hydrocortisone or cortisone for glucocorticoid replacement, with the goal of substituting normal adrenal activity with minimal risks of unwanted effects 2
• Prednisone may also be used as an alternative glucocorticoid 3
• Dexamethasone may be used in certain cases, particularly when oral therapy is not feasible 4

Key points:

• The treatment of CAH aims to replace deficient hormones and prevent complications.
• The choice of medication and dosage depends on the severity of the disease and the individual patient's response.
• Patients with CAH require ongoing monitoring and adjustment of their treatment regimen as needed.

From the Research

Treatment Overview

The recommended treatment for congenital adrenal hyperplasia (CAH) involves life-long medical treatment to replace lacking glucocorticoids and potentially lacking mineralocorticoids, and to lower elevated adrenal androgens 5. The primary goal of treatment is to prevent adrenal crises, achieve normal stature, and ensure optimal adult height and normal puberty in children, while in adults, treatment aims to prevent adrenal crises, ensure normal fertility, and avoid long-term consequences of glucocorticoid use 6.

Glucocorticoid Replacement Regimens

Glucocorticoid therapy remains the first line of management in CAH, with the aim of suppressing adrenocorticotrophic hormone (ACTH)-mediated hyperandrogenemia and replacing glucocorticoid deficiency, if indicated 7. Different glucocorticoid replacement regimens have been compared in various studies, including hydrocortisone, prednisolone, and dexamethasone 6, 8, 9. The choice of glucocorticoid regimen should be based on individual patient factors, as there do not appear to be significant differences between hydrocortisone and prednisolone therapy 9.

Key Considerations

• Dexamethasone is associated with the greatest degree of adrenal suppression, but also with more adverse effects, such as lower bone mineral density (BMD) and higher body mass index (BMI) 9.
• Hydrocortisone and prednisolone are commonly used glucocorticoids in CAH treatment, with no significant differences in 17-hydroxyprogesterone (17OHP) and androstenedione levels between patients treated with these two agents 9.
• Close monitoring is essential for patients treated with dexamethasone due to its high potency and potential for overtreatment 8.
• 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 5.

Treatment Goals

• Prevent adrenal crises
• Achieve normal stature and optimal adult height
• Ensure normal puberty in children
• Prevent long-term consequences of glucocorticoid use in adults
• Ensure normal fertility in adults
• Manage female genital virilization in CAH 7