The genetics of familial glucocorticoid deficiency
| Autor: | Teng-Teng Chung, Louise A. Metherell, Li F. Chan, Adrian J. L. Clark |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
endocrine system
medicine.medical_specialty Endocrinology Diabetes and Metabolism Adrenocorticotropic hormone Biology Endocrine System Diseases Mice Endocrinology Glucocorticoid receptor Adrenocorticotropic Hormone Internal medicine medicine Animals Humans Elevated ACTH ACTH receptor Receptor Glucocorticoids MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN Disease Models Animal Immunology Familial Glucocorticoid Deficiency Melanocortin Receptor Melanocortin Type 2 hormones hormone substitutes and hormone antagonists |
| Zdroj: | Best Practice & Research Clinical Endocrinology & Metabolism. 23:159-165 |
| ISSN: | 1521-690X |
| Popis: | Familial glucocorticoid deficiency is an autosomal recessive disorder resulting from defects in the action of adrenocorticotropic hormone (ACTH) to stimulate glucocorticoid synthesis in the adrenal. Production of mineralocorticoids by the adrenal is normal. Patients present in early life with low or undetectable cortisol and--because of the failure of the negative feedback loop to the pituitary and hypothalamus--grossly elevated ACTH levels. About half of all cases result from mutations in the ACTH receptor (melanocortin 2 receptor) or from mutations in the melanocortin 2 receptor accessory protein (MRAP), but other genetic causes of this potentially lethal disorder remain to be discovered. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect