From the Guidelines
Congenital adrenal hyperplasia (CAH) is a lifelong condition that can persist into adulthood, requiring ongoing medical management to prevent complications and minimize side effects. Although the provided evidence [ 1 ] primarily focuses on congenital heart disease, the principle of lifelong management for congenital conditions can be applied to CAH as well. The condition is caused by a genetic mutation affecting adrenal enzyme function, which remains throughout life, making lifelong hormone replacement necessary. Key aspects of managing CAH in adulthood include:
- Daily glucocorticoid replacement, typically with hydrocortisone, prednisone, or dexamethasone
- Mineralocorticoid replacement with fludrocortisone for some patients
- Regular monitoring of hormone levels, including 17-hydroxyprogesterone, androstenedione, and renin, with dose adjustments as needed
- Management of potential complications, such as fertility issues in women and testicular adrenal rest tumors in men
- Stress dosing during illness or surgery to prevent adrenal crises. It is essential to note that while the provided evidence [ 1 ] does not directly address CAH, the concept of lifelong management for congenital conditions is relevant, and the specific details of CAH management are based on general medical knowledge and the principles of hormone replacement therapy.
From the Research
Congenital Adrenal Hyperplasia in Adulthood
- Congenital adrenal hyperplasia (CAH) is a condition that can persist into adulthood, with nearly all patients reaching adulthood due to improved diagnosis and treatment 2.
- The treatment goals for CAH shift during life, with normal growth and development being a major goal in childhood and puberty, while fertility and side effects of long-term glucocorticoid treatment become more important in adulthood 2, 3.
- Adults with CAH may experience complications such as short stature, obesity, infertility, impaired bone mineral density, and reduced quality of life 3.
- The aims of medical treatment in adulthood are to substitute cortisol and aldosterone deficiency, ensure normal fertility, and avoid long-term consequences of glucocorticoid use on bone, metabolism, and cardiovascular risk 3.
Fertility in Adults with CAH
- Fertility rates are reduced in males with CAH, with testicular adrenal rest tumors being a common cause 2.
- In females with CAH, the degree of fertility depends on the phenotype of the CAH, with most fertility problems seen in the classic salt-wasting type 2.
- Other factors that contribute to impaired fertility in females with CAH include ovarian hyperandrogenism, ovarian adrenal rest tumors, genital surgery, and psychological factors 2.
Management and Treatment
- Successful transition from pediatric to adult healthcare requires a regular follow-up of patients by a multidisciplinary team, including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists 3.
- A specific therapeutic education program regarding transition and/or CAH can be beneficial for patients with CAH 3.
- Novel treatment approaches are emerging, aiming to mimic physiological circadian cortisol rhythm or reduce adrenal hyperandrogenism independent of the suppressive effect of glucocorticoids 4.