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Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action
Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, transcription factors and signaling systems that are involved in the process. Ana...
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Formato: | Texto |
Lenguaje: | English |
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Galenos Publishing
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005746/ https://www.ncbi.nlm.nih.gov/pubmed/21274298 http://dx.doi.org/10.4274/jcrpe.v1i5.209 |
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author | Honour, John W. |
author_facet | Honour, John W. |
author_sort | Honour, John W. |
collection | PubMed |
description | Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, transcription factors and signaling systems that are involved in the process. Analyses of mutations are available as a diagnostic service for only a few of these genes although research laboratories may be able to provide a service. Both biochemical and genetic research have brought to light new disorders. Some genes for transcription factors involved in the development of the endocrine organs have also been identified and patients with defects in these processes have been found. This paper will review general aspects of adrenal disorders with emphasis on clinical and laboratory findings. As with all endocrine investigations there are few single measurements that provide a definitive answer to a diagnosis. Timing of samples in relation to age, gender and time of day needs to be considered. Conflict of interest:None declared. |
format | Text |
id | pubmed-3005746 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-30057462011-01-27 Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action Honour, John W. J Clin Res Pediatr Endocrinol Review Biochemical tests have been the basis for investigations of disorders affecting steroid hormones. In recent years it has been possible however to study the genes that determine functional enzymes, cofactors, receptors, transcription factors and signaling systems that are involved in the process. Analyses of mutations are available as a diagnostic service for only a few of these genes although research laboratories may be able to provide a service. Both biochemical and genetic research have brought to light new disorders. Some genes for transcription factors involved in the development of the endocrine organs have also been identified and patients with defects in these processes have been found. This paper will review general aspects of adrenal disorders with emphasis on clinical and laboratory findings. As with all endocrine investigations there are few single measurements that provide a definitive answer to a diagnosis. Timing of samples in relation to age, gender and time of day needs to be considered. Conflict of interest:None declared. Galenos Publishing 2009-09 2009-08-02 /pmc/articles/PMC3005746/ /pubmed/21274298 http://dx.doi.org/10.4274/jcrpe.v1i5.209 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Honour, John W. Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title | Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title_full | Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title_fullStr | Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title_full_unstemmed | Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title_short | Diagnosis of Diseases of Steroid Hormone Production, Metabolism and Action |
title_sort | diagnosis of diseases of steroid hormone production, metabolism and action |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005746/ https://www.ncbi.nlm.nih.gov/pubmed/21274298 http://dx.doi.org/10.4274/jcrpe.v1i5.209 |
work_keys_str_mv | AT honourjohnw diagnosisofdiseasesofsteroidhormoneproductionmetabolismandaction |