title: Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
abstract: BACKGROUND
  Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency can cause life-threatening adrenal crises as well as severe hypoglycemia, especially in very young children. Studies of CAH patients 4 years old or older have found abnormal morphology and function of the adrenal medulla and lower levels of epinephrine and glucose in response to stress than in controls. However, it is unknown whether such adrenomedullary abnormalities develop in utero and/or exist during the clinically high-risk period of infancy and early childhood.
  
  
  OBJECTIVE
  The objective of the study was to characterize adrenomedullary function in infants with CAH by comparing their catecholamine levels with controls. Design/Settings: This was a prospective cross-sectional study in a pediatric tertiary care center.
  
  
  METHODS
  Plasma epinephrine and norepinephrine levels were measured by HPLC.
  
  
  RESULTS
  Infants with CAH (n = 9, aged 9.6 ± 11.4 d) had significantly lower epinephrine levels than controls [n = 12, aged 7.2 ± 3.2 d: median 84 [(25th; 75th) 51; 87] vs 114.5 (86; 175.8) pg/mL, respectively (P = .02)]. Norepinephrine to epinephrine ratios were also significantly higher in CAH patients than controls (P = .01). The control infants had primary hypothyroidism, but pre- and posttreatment analyses revealed no confounding effects on catecholamine levels.
  
  
  CONCLUSIONS
  This study demonstrates for the first time that infants with classical CAH due to 21-hydroxylase deficiency have significantly lower plasma epinephrine levels than controls, indicating that impaired adrenomedullary function may occur during fetal development and be present from birth. A longitudinal study of adrenomedullary function in CAH patients from infancy through early childhood is warranted.
authors.affiliation: Division of Endocrinology (M.S.K., A.R.-L., B.B., A.H.P., S.H., M.E.G.), Children's Hospital Los Angeles, The Saban Research Institute (M.S.K., M.E.G.), and the University of Southern California (M.S.K., C.J.L., M.E.G.), Los Angeles, California 90027.
authors.forename: Mimi S
authors.initials: MS
authors.lastname: Kim
authors.forename: Anna
authors.initials: A
authors.lastname: Ryabets-Lienhard
authors.forename: Bhavna
authors.initials: B
authors.lastname: Bali
authors.forename: Christianne J
authors.initials: CJ
authors.lastname: Lane
authors.forename: Ashley H
authors.initials: AH
authors.lastname: Park
authors.forename: Sandra
authors.initials: S
authors.lastname: Hall
authors.forename: Mitchell E
authors.initials: ME
authors.lastname: Geffner
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000150:complications* / Q000503:physiopathology*; D000309:Adrenal Insufficiency / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D000313:Adrenal Medulla / Q000503:physiopathology*; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D004837:Epinephrine / Q000097:blood; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009638:Norepinephrine / Q000097:blood; D013961:Thyroid Gland / Q000502:physiology
chemical_list: D009638:Norepinephrine; D004837:Epinephrine