HEMATOLOGIC AND CARDIOMETABOLIC LABORATORY MEASURES IN FEMALES WITH CLASSIC CONGENITAL ADRENAL HYPERPLASIA Restricted; Files Only
Guo, Zihan (Spring 2026)
Abstract
Backgrounds: Congenital adrenal hyperplasia (CAH), a disorder of sex development (DSD) most commonly caused by 21-hydroxylase deficiency, is associated with lifelong hormonal abnormalities and chronic glucocorticoid treatment, both of which may influence cardiometabolic health. However, long-term cardiometabolic patterns in females with classic 46, XX CAH remain incompletely characterized.
Methods: We used data from the DSD Pathways cohort, an electronic health record-based study conducted within three integrated U.S. healthcare systems. A total of 115 individuals with confirmed classic 46, XX CAH were matched to 1,150 female referents by site, race/ethnicity, enrollment period, and age at index date. We examined repeated measures of hemoglobin (Hgb), hematocrit (Hct), blood glucose, hemoglobin A1c, lipid profile, and blood pressure. Linear mixed-effects models were used to estimate age-adjusted least-squares means (LS-means) and mean differences between groups along with the corresponding 95% confidence intervals (CIs). We also classified participants as ever having an abnormal laboratory value using published age-specific cutoffs and estimated adjusted prevalence ratios (aPRs) and 95% CIs using Poisson regression with robust standard errors.
Results: Overall, females with CAH were broadly similar to matched female referents for most continuous cardiometabolic measures. However, adjusted mean Hct was on average 1.58 percentage points higher (95% CI: 0.98 to 2.19) and adjusted mean Hgb was 0.62 g/dL higher (95% CI: 0.40 to 0.84) in females with CAH than in matched referents. Mean random glucose was slightly lower in CAH patients, while hemoglobin A1c, lipid measures, and blood pressure were generally similar across groups. In analyses of abnormal-value prevalence, adjusted for the total number of measures elevated random blood glucose (aPR=2.33, 95% CI: 1.27 to 4.29), Hgb (aPR=2.26, 95% CI: 1.82 to 2.80), Hct (aPR=3.12, 95% CI: 2.33 to 4.17), total cholesterol (aPR=1.24, 95% CI: 1.00 to 1.53), and triglycerides (aPR=1.33, 95% CI: 1.06 to 1.67) were more common among females with CAH than among matched referents.
Conclusions: Females with classic 46, XX CAH were similar to matched referents for most continuous cardiometabolic indicators but had higher hemoglobin and hematocrit and a greater prevalence of selected abnormal laboratory values. These findings suggest that cardiometabolic differences in CAH may be selective and may be more apparent in clinically abnormal values than in mean levels alone.
Table of Contents
Introduction
Methods
Results
Discussion
References
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File download under embargo until 21 May 2027 | 2026-04-28 15:07:21 -0400 | File download under embargo until 21 May 2027 |
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