From the Research
Treatment Overview
The treatment for Congenital Adrenal Hyperplasia (CAH) typically involves lifelong medical treatment to replace lacking glucocorticoids and potentially lacking mineralocorticoids, as well as to lower elevated adrenal androgens 1, 2, 3.
Current Treatment Regimens
- Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment for CAH 3.
- Standard-of-care glucocorticoid formulations are often used, but they can fall short of replicating the circadian rhythm of cortisol and controlling efficient adrenocorticotrophic hormone-driven adrenal androgen production 2.
- The optimal treatment for adults with CAH continues to be a challenge, with important long-term health issues affecting both men and women, including gonadal dysfunction, infertility, and cardiovascular and metabolic co-morbidity 1, 3.
Novel Therapies
- 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 1, 2.
- New therapeutic agents are being explored, including "more physiological" hydrocortisone administration, corticotropin releasing hormone (CRH) and adrenocorticotropic hormone (ACTH) receptor antagonists, anti-ACTH antibodies, and steroidogenesis inhibitors 4.
- Gene and cell therapies also suggest the possibility of lasting remission or even cure in the future 4.
- Non-GC therapies are being developed to reduce excess androgens and allow for lower GC doses, which may have a large cumulative impact in decreasing the GC-related burden of the disease 5.
Management Challenges
- Management of CAH is complicated by a combination of comorbidities that arise from disease-related hormonal derangements and treatment-related adverse effects 2.
- The clinical outcomes of CAH can include life-threatening adrenal crises, altered growth and early puberty, and adverse effects on metabolic, cardiovascular, bone, and reproductive health 2.
- Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH, with optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment, and continuous psychological management 3.