Abstract | CONTEXT:
Glucocorticoid resistance is a rare genetic condition characterized by reduced sensitivity to cortisol signaling and subsequent hyperactivation of the hypothalamic-pituitary-adrenal axis. OBJECTIVE: The objective was to confirm the diagnosis of glucocorticoid resistance in the patient, to determine the degree of suppression of cortisol and ACTH levels in response to dexamethasone, and to determine the underlying genetic abnormality and functional consequences of the mutation. PATIENT AND METHODS: RESULTS: CONCLUSION:
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Authors | Sarah K McMahon, Carel J Pretorius, Jacobus P J Ungerer, Nathaniel J Salmon, Louise S Conwell, Michael A Pearen, Jennifer A Batch |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 95
Issue 1
Pg. 297-302
(Jan 2010)
ISSN: 1945-7197 [Electronic] United States |
PMID | 19933394
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Glucocorticoids
- Ligands
- Receptors, Glucocorticoid
- Human Growth Hormone
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Topics |
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Drug Resistance
(genetics)
- Glucocorticoids
(metabolism, pharmacology)
- Growth Disorders
(complications, diagnosis, genetics)
- Homozygote
- Human Growth Hormone
(deficiency)
- Humans
- Infant, Newborn
- Ligands
- Male
- Mutation
(physiology)
- Neonatal Screening
- Parents
- Protein Interaction Domains and Motifs
(genetics)
- Protein Structure, Secondary
(genetics)
- Receptors, Glucocorticoid
(chemistry, genetics, metabolism)
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