Endocrine Abstracts

Background: Congenital adrenal hyperplasia (CAH) is a rare inherited disorder, usually due to 21-hydroxylase deficiency, causing reduced cortisol and aldosterone production with excess adrenal androgens. Although corticosteroid replacement and new treatments have improved outcomes, people with CAH still experience serious long-term complications. Managing CAH remains complex, with challenges in optimising treatment, preventing adrenal crisis, and enhancing quality of life.

Methods: Following Arksey and O’Malley’s scoping review framework, we systematically searched multiple databases, including MEDLINE, EMBASE, and CINAHL, for studies published from 2001 onwards that address CAH-related complications, treatment approaches, and patient outcomes. The search strategy included the MeSH term “Congenital Adrenal Hyperplasia” and its variations, covering both children and adults. We excluded case reports, review articles, and molecular studies. The Rayyan platform was used to record, screen, and organise the articles. Two independent reviewers screened the articles, with any disagreements resolved by a third reviewer.

Results: Of 3,016 records identified after removal of duplicates, 250 studies met inclusion criteria. Most were retrospective (n = 69) and single centre (n = 131) in design. Research predominantly focused on care provision (n = 92), growth and bone health (n = 63), metabolic (n = 61), cardiovascular (n = 53), cognitive and mental health (n = 50), quality of life (n = 25), and adrenal crisis and hospital attendance (n = 18). Of all, many adverse outcomes were associated with long-term or supraphysiological glucocorticoid exposure. Evidence gaps included limited prospective data (n = 27), underrepresentation of non-classic CAH (n = 67), uneven geographical distribution with more than half of the studies from US, UK and other European countries, limited use of national (n = 34) and international (n = 9) registries, inconsistent outcome definitions, and fragmented models of care.

Conclusion: This review provides a comprehensive map of current evidence, clarifies where knowledge gaps remain, and offers practical directions for future research and clinical practice. Improving CAH care requires ongoing multidisciplinary efforts to develop more personalised, safe, and effective management strategies that address the full spectrum of patient needs across the lifespan.