eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | congenital adrenal hyperplasia |
| Symptom | C0235394|wasting |
| Sentences | 4 |
| PubMedID- 24694176 | Neonatal screening for congenital adrenal hyperplasia, another cause of salt wasting, using 17-hydroxyprogesterone measurement would fail to detect aldosterone synthase deficiency, a diagnosis which may be missed until the patient presents with salt-wasting crisis. |
| PubMedID- 23947590 | Fludrocortisone has much greater mineralocorticoid vs. gc potency and, therefore, is commonly used to replace aldosterone in addison's disease and the classic salt-wasting form of congenital adrenal hyperplasia . |
| PubMedID- 24043550 | Objectives: to describe the clinical presentation and sequelae, including salt-wasting crises of newly-diagnosed congenital adrenal hyperplasia (cah) in children aged over 1 year in a contemporary population without screening. |
| PubMedID- PMC4442922 | The laboratory evaluation should also include an assay for serum electrolytes, to exclude a salt-wasting form of congenital adrenal hyperplasia (cah), a measurement of 17-hydroxyprogesterone (usually after 48 h to avoid interference with maternal progesterone), testosterone, gonadotrophins, and müllerian-inhibiting substance (mis). |
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