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Low Adrenomedullary Function Predicts Acute Illness in Infants With Classical Congenital Adrenal Hyperplasia
Jonathan Weber1, Veeraya K Tanawattanacharoen1, Amy Seagroves1
1Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
Insights
Infants with congenital adrenal hyperplasia (CAH) have lower epinephrine levels, increasing their risk of illness. Measuring epinephrine and genotype may help predict early-life acute illness in CAH patients.
Area of Science:
- Pediatric Endocrinology
- Neonatal Medicine
- Genetics
Background:
- Congenital adrenal hyperplasia (CAH) in youth is linked to abnormal adrenomedullary function, specifically decreased epinephrine levels in early infancy.
- The relationship between epinephrine deficiency and morbidity during the first year of life in CAH patients remains poorly understood.
Purpose of the Study:
- To investigate plasma epinephrine levels in infants diagnosed with classical CAH.
- To determine the clinical significance of epinephrine deficiency in predicting illness during the first year of life.
Main Methods:
- A prospective cohort study involving 36 infants with classical CAH (21-hydroxylase deficiency) and 27 age-matched controls with congenital hypothyroidism.
- Measurements included plasma epinephrine levels, CYP21A2 genotype, and incidence of acute illnesses from birth to 1 year.
Main Results:
- Lower epinephrine levels in CAH infants independently predicted higher illness incidence (P=.02) and correlated with 17-hydroxyprogesterone levels (P=.007).
- Newborn epinephrine levels were lower in CAH infants than controls (P=.007) and decreased over the first year (P=.04).
- Salt-wasting CAH and null CYP21A2 genotype were associated with lower newborn epinephrine and increased illness risk.
Conclusions:
- Reduced epinephrine levels in infants with CAH are associated with an elevated risk of illness.
- Measuring epinephrine levels and CYP21A2 genotype may aid in predicting acute illness in the first year of life for CAH infants, though not currently standard care.
Context:
Youth with classical congenital adrenal hyperplasia (CAH) exhibit abnormal adrenomedullary function with decreased epinephrine levels noted in newborns and young infants. Little is known about how this relates to morbidity during the first year of life.
Objective:
This work aimed to study plasma epinephrine levels in infants with classical CAH and examine the clinical significance of epinephrine deficiency in the first year of life.
Methods:
This prospective cohort study comprised participants recruited from a pediatric tertiary care center: 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls with congenital hypothyroidism. Main outcome measures included plasma epinephrine levels (N = 27), CYP21A2 genotype (N = 15), and incidence of acute illnesses from birth to age 1 year (N = 28).
Results:
Epinephrine levels in CAH infants independently predicted illness incidence in the first year of life (β = -0.018, R = -0.45, P = .02) and were negatively correlated with 17-hydroxyprogesterone at diagnosis (R = -0.51, P = .007). Infants with salt-wasting CAH exhibited lower epinephrine levels as newborns than simple-virilizing infants (P = .02). CAH patients had lower epinephrine as newborns than did controls (P = .007) and showed decreases in epinephrine from birth to age 1 year (P = .04). Null genotype was associated with lower newborn epinephrine and more illness in the first year of life, compared to less severe mutation categories.
Conclusion:
Lower epinephrine levels are associated with increased risk of illness among CAH infants. While not currently part of clinical standard of care, measuring epinephrine levels and assessing genotype may help predict acute illness in the first year of life.
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