Cardiometabolic Risk in Patients With Congenital Adrenal Hyperplasia: Recent Findings From a Systematic Literature Review

OBJECTIVES: Congenital adrenal hyperplasia (CAH) is a group of genetic disorders characterized by impaired cortisol synthesis, often requiring lifelong glucocorticoid replacement therapy. Supraphysiological doses of glucocorticoids may contribute to long-term health complications. This systematic literature review (SLR) aimed to examine recent evidence on the burden of CAH, with a focus on investigating the impact of glucocorticoid treatment.

METHODS: Searches were conducted in PubMed and Directory of Open Access Journals (DOAJ) databases for studies published between November 2022 and May 2024. This SLR was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Inclusion criteria encompassed observational studies, randomized controlled trials, systematic reviews, and meta-analyses focusing on clinical outcomes in CAH patients. Two independent reviewers screened titles, abstracts, and full-text (FT) based on predefined criteria. Data extraction and quality assessment were ongoing at the time of abstract submission; preliminary analysis involved filtering studies advanced to FT review using predefined keywords.

RESULTS: Searches yielded 901 articles, of which 125 proceeded to FT review. Preliminary analysis of select included studies (n=5) revealed consistent evidence of increased cardiometabolic risk in CAH patients. Compared to controls, CAH patients in these studies had higher body mass index (standard deviation score: 0.28-0.39), visceral adipose tissue (106% higher, p=0.002), and visceral adiposity index (48% higher, p=0.02). A large cohort study (n=1,647) reported higher prevalence of overweight/obesity (odds ratio 3.63 [3.24,4.07]), hypertension (3.07 [2.60,3.64]), and dysglycemia (1.95 [1.35,2.82]) in CAH patients. One study identified glucocorticoid dose as an independent risk factor for increased Framingham Risk Scores (β=0.04, p=0.03) and visceral adiposity index (β=0.17, p=0.018).

CONCLUSIONS: This SLR evidences an elevated cardiometabolic risk profile in CAH patients. An observed association between glucocorticoid dosing and cardiometabolic risk factors highlights the importance of optimizing glucocorticoid treatment to balance effective disease control with minimization of potential metabolic complications.