Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
Abstract
Charmandari et al. (1) present intriguing data examining the relationship between CYP21 genotype, phenotype, and plasma catechols among patients with congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency. The authors conclude that disease severity (i.e. salt-wasting vs. simple virilizing classic CAH) can be equally well predicted by genotype and a single early morning plasma free metanephrine measured by liquid chromatography. The level of this O-methylated metabolite of epinephrine reflecting adrenal medullary stores of epinephrine is significantly lower among salt-wasters compared with simple virilizers. Plasma free metanephrine, like genotype, is a predictive test independent of exogenous steroid treatment or degree of adrenal cortical hormone control. Moreover, there is no circadian or ultradian variation, nor do stress or physical activity perturb ambient levels of plasma free metanephrine. One would like to know whether there is any use in continued monitoring of plasma metanephrine. For example, will such measurements serve as a marker for inadequate adrenal cortical hormone control, or for incipient adrenal crisis?
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Lower plasma epinephrine levels in CAH infants carry significance for prediction of disease severity at an early stage in life.
“This study demonstrates that infants with CAH have significantly lower plasma epinephrine levels than agematched controls, which carries significance for prediction of disease severity at an early stage in life (18).”
From Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia. (2014) · cites this paper as [18]
Cites
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The use of adrenalectomy as a treatment for congenital adrenal hyperplasia
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Self-citationAdrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency
Charmandari, E., Eisenhofer, G., Mehlinger, S. L., Carlson, A., Wesley, R., Keil, M. F., Chrousos, G. P., New, M. I., & Merke, D. P. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.7.8664 · Cited by 70 · see citing works
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Forest, M. G. (2004) · Human Reproduction Update · doi:10.1093/humupd/dmh047 · Cited by 200 · see citing works
Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia.
Kim, M. S., Ryabets-Lienhard, A., Bali, B., Lane, C. J., Park, A. H., Hall, S., & Geffner, M. E. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1274 · Cited by 38 · see citing works
The adrenal gland microenvironment in health, disease and during regeneration
Kanczkowski, W., Sue, M., & Bornstein, S. R. (2017) · HORMONES · doi:10.14310/horm.2002.1744 · Cited by 34 · see citing works
- Authors
- Speiser, P. W.
- Affiliations
- Northwell Health (US)
- Corresponding author
- Speiser, Phyllis W.
- ORCID
- Speiser, Phyllis W.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2002-07
- Volume
- 87
- Issue
- 7
- Pages
- 3029-3030
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2034266431
- Cited by
- 3
- References
- 7
- Citations by year
- 2017: 1 · 2014: 1
- FWCI
- 0.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- School of Medicine, New York University
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- congenital adrenal hyperplasia, plasma free metanephrines, adrenomedullary function, disease severity prediction, salt-wasting CAH, simple virilizing CAH, epinephrine
- MeSH terms
- Adrenal Medulla, Forecasting, Genotype, Humans, Metabolism, Inborn Errors, Phenotype, Steroid 21-Hydroxylase
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