ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2022; 107(1): e264–e271. PMID: 34397083https://pubmed.ncbi.nlm.nih.gov/34397083/

Brief Summary: This prospective cohort study determined plasma epinephrine concentrations in infants with classic CAH, and showed that the lower epinephrine reseve is associated with increased risk of illness.

Children and adolescents with classical Congenital Adrenal Hyperplasia (CAH) have impaired adrenomedullary function with decreased epinephrine concentrations noted in newborns and young infants. This study measured plasma epinephrine concentrations in infants with classic CAH and related these to morbidity during the first year of life. The authors studied prospectively 36 infants with classical CAH due to 21-hydroxylase deficiency and 27 age-matched unaffected controls (with congenital hypothyroidism). Main outcomes included plasma epinephrine concentrations (n=27), CYP21A2 genotype (n=15), and incidence of acute illnesses from birth to age 1 year (n=28).

Higher epinephrine concentrations in infants with CAH were negatively correlated with 17-hydroxyprogesterone at diagnosis (R=-0.51, p=0.007) and independently predicted less illness in the first year of life (β=-0.018, R=-0.45, p=0.02). Infants with salt-wasting CAH had lower epinephrine concentrations as newborns than simple-virilizing infants. Patients with CAH had lower epinephrine as newborns than controls, and showed decreases in epinephrine from birth to age 1 year. Null genotype was associated with lower newborn epinephrine concentrations and more incidences of illness in the first year of life, compared to less severe mutation categories.

In summary, these findings show that lower epinephrine concentrations are associated with increased risk of illness in infants with classic CAH. Therefore, determining epinephrine concentrations may help predict acute illness in the first year of life.

References: 1. Kim MS, Ryabets-Lienhard A, Bali B, Lane CJ, Park AH, Hall S, Geffner ME. Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2014; 99(8): E1597–601. 2. Weise M, Mehlinger SL, Drinkard B, Rawson E, Charmandari E, Hiroi M, Eisenhofer G, Yanovski JA, Chrousos GP, Merke DP. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise. J Clin Endocrinol Metab. 2004; 89(2): 591–7. 3. Charmandari E, Eisenhofer G, Mehlinger SL, Carlson A, Wesley R, Keil MF, Chrousos GP, New MI, Merke DP. Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2002; 87(7): 3031–7.