OBJECTIVES: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD), a genetic disorder characterized by cortisol deficiency and excess adrenal androgens, typically requires management with supraphysiological glucocorticoid (GC) doses. Patients with classic CAH often face multiple complications related to excess androgen and/or supraphysiological GC doses. Here, we characterize those complications among US patients with classic CAH.

METHODS: Merative’s MarketScan database retrospective insurance claims from 2020-2022 were analyzed. The classic CAH cohort was defined as patients with: (1) 2+ diagnoses of E25.0 30 days apart anytime from 2020-22; (2) a proprietary market definition specific to treatments and tests; and (3) 12 months of continuous 2022 enrollment. The frequency of comorbidities related to excess androgens and/or supraphysiological GC were captured using ICD-10 codes and compared to a general population cohort matched by age, sex, payer type, region, and enrollment duration.

RESULTS: The classic CAH cohort consisted of 687 patients (57% female) with a mean age of 20 years. Compared to control, classic CAH patients had significantly greater rates of multiple chronic conditions related to both excess androgens and supraphysiological GC doses, including cardiometabolic diseases (cardiovascular disease, hypertension, and diabetes (10.6% vs. 6.6%, 13.2% vs. 8.2%, 5.1 vs. 3.3%, respectively), short statures (7.0% vs. 0.9%), and obesity (17.9% vs. 8.7%). Rates of conditions often related to excess androgens, such as hirsutism and precocious puberty were higher in classic CAH patients (11.0% vs. 1.0%, 9.5% vs. 0.7%, respectively). Rates of comorbidities generally related to supraphysiological GC such as bone fracture were also higher in classic CAH patients (8.9% vs. 6.5). All p-values <0.05.

CONCLUSIONS: Patients with classic CAH have higher rates of comorbidities related to excess androgens and/or supraphysiological GC compared to the matched general population.