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Horm Metab Res 2010; 42(8): 607-612
DOI: 10.1055/s-0030-1253385
Humans, Clinical

© Georg Thieme Verlag KG Stuttgart · New York

Adrenomedullary Function in Patients with Nonclassic Congenital Adrenal Hyperplasia

S. Verma1 , 6 , L. Green-Golan2 , C. VanRyzin2 , B. Drinkard3 , S. P. Mehta2 , M. Weise4 , G. Eisenhofer5 , D. P. Merke1 , 2 , 6
  • 1Program in Developmental Endocrinology and Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA
  • 2National Institutes of Health, Clinical Center, Bethesda, Maryland, USA
  • 3Rehabilitation Medicine Department at National Institutes of Health, Bethesda, Maryland, USA
  • 4Federal Institute for Drugs and Medical Devices, Bonn, Germany
  • 5Institute of Clinical Chemistry & Laboratory Medicine and Department of Medicine, University Hospital, Dresden, Germany
  • 6Somya Verma and Deborah Merke are Commissioned Officers in the United States Public Health Service
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Publication History

received 14.12.2009

accepted 07.04.2010

Publication Date:
05 May 2010 (online)

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Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is classified into three types based on disease severity: classic salt-wasting, classic simple virilizing, and nonclassic. Adrenomedullary dysplasia and epinephrine deficiency have been described in classic CAH, resulting in glucose dysregulation. Our objective was to investigate adrenomedullary function in nonclassic CAH and to evaluate adrenomedullary function according to disease severity. Adrenomedullary function was evaluated in response to a standardized cycle ergonometer test in 23 CAH patients (14 females, age 9–38 years; 6 salt-wasting, 7 simple virilizing, 5 nonclassic receiving glucocorticoid treatment, 5 nonclassic not receiving glucocorticoid), and 14 controls (7 females, age 12–38 years). Epinephrine, glucose, and cortisol were measured at baseline and peak exercise. CAH patients and controls were similar in age and anthropometric measures. Patients with nonclassic CAH who were not receiving glucocorticoid and controls experienced the expected stress-induced rise in epinephrine, glucose, and cortisol. Compared to controls, patients with all types of CAH receiving glucocorticoid had impaired exercise-induced changes in epinephrine (salt-wasting: p=0.01;simple virilizing: p=0.01; nonclassic: p=0.03), and cortisol (salt-wasting: p=0.004; simple virilizing: p=0.006; nonclassic: p=0.03). Salt-wasting patients displayed the most significant impairment, including impairment in glucose response relative to controls (p=0.03). Hydrocortisone dose was negatively correlated with epinephrine response (r=−0.58; p=0.007) and glucose response (r=−0.60; p=0.002). The present study demonstrates that untreated patients with nonclassic CAH have normal adrenomedullary function. The degree of epinephrine deficiency in patients with CAH is associated with the severity of adrenocortical dysfunction, as well as glucocorticoid therapy.

Key words

glucocorticoids - epinephrine - adrenal cortex - adrenal medulla

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Correspondence

D. P. MerkeMD, MS 

NIH

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Email: dmerke@nih.gov