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 crises, and enhancing quality of life.

Objective: This study aimed to identify ongoing gaps in research and practice and set priorities for better lifelong care. We systematically reviewed literature published since 2001 to map the scope and depth of existing research on CAH.

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: The initial search identified 3,016 articles, of which 426 met the inclusion criteria. Full texts were available for 312 articles. To provide more categorised data, we initially grouped the articles into eleven preliminary themes, which were refined to seven final themes, ultimately yielding 259 articles. To link our findings more effectively to patient outcomes, the themes were organised around major patient complications, overall quality of life, and complexities in care. The final thematic distribution included 56 articles on cardiovascular health, 57 on cognitive and mental health, 78 on metabolic outcomes, 21 on adrenal crisis and hospital attendance, 73 on growth, 35 on quality of life, and 143 on care provision. Overall, yielding 118 retrospective studies.

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.