Objectives: To examine anthropometric changes of patients with classic 46,XX congenital adrenal hyperplasia (CAH) and matched referents; and 2) To investigate the impact of improvements in diagnosis and care on growth patterns in these patients by comparing changes in anthropometric parameters before and after CAH consensus guidelines.
Methods: This was a retrospective cohort study nested within 3 large integrated health-systems. Seventy-six patients with classic 46XX CAH and 1102 matched referents <21 years of age were identified. Anthropometric measurements including age-specific percentiles for height, weight, and body mass index were examined and compared between groups using linear mixed-effect models. Anthropometric trajectories were explored using latent class analyses.
Results: CAH patients had lower height percentiles than referents at all time points. Differences ranged from 10.7% to 28.4%. After age 5, differences in height were only significant among study participants born before the publication of CAH consensus guidelines. Latent class analyses of height detected a "gradual growth increase" pattern in 28% of CAH cases and only 4% of referents, and a "growth stunting" pattern was observed in 13% of CAH cases and 6% of referents. Height percentile measures did not differ in CAH patients with or without evidence of hormonal interventions (growth hormone and/or puberty blockers) used to increase adult height.
Conclusions: There is substantial heterogeneity in growth trajectories of CAH patients. Although stunting may affect CAH patients, advances in diagnosis and care improved anthropometric outcomes in this population. Understanding the disease- and therapy-related mechanisms that explain the different growth patterns requires additional research.
Keywords: anthropometrics; cohort; congenital adrenal hyperplasia; disorders of sex development; electronic health records.
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