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FAMILIAL GLUCOCORTICOID DEFICIENCY
The most common symptoms or signs of Familial Glucocorticoid Deficiency would be very low levels of blood plasma in the body. This is a adrenocortical failure problem that is again hereditary and there is nothing preventive that you can do here. The most common signs of this disease would include skin pigmentation which is often dismissed as something general and not taken seriously.
HOW IS FAMILIAL GLUCOCORTICOID DEFICIENCY DIAGNOSED?
A general physician diagnoses this disease by the following tests:
1. Baseline 9 am serum cortisol and adrenocorticotropic hormone (ACTH) stimulation test
2. Plasma tests: Plasma results reveal normal very long chain fatty acid (VLCFA) levels, thus ruling out adrenoleukodystrophy.
3. Serum tests
4. Steroid deficiencies
5. Antiadrenal antibodies
6. Ophthalmologic examination
7. Hypoglycemia tests
8. Pituitary hormone evaluation
9. Adrenal MRI or CT scan
HOW IS FAMILIAL GLUCOCORTICOID DEFICIENCY TREATED?
Treatment for FGD includes the replacement of glucocorticoids in order to avoid not only adrenal crisis but to allow normal growth
in these children. Glucocorticoid replacement is achieved with hydrocortisone (12-16 mg/m2/24h PO divided into 3 doses).
An equivalent dose of prednisone or dexamethasone may be administered to adults and the occasional patient who has difficulty
with compliance. However, the potential for growth suppression with either prednisone or dexamethasone is greater than
hydrocortisone, and, therefore, these agents should be used with caution. Administer the lowest dosage necessary to
prevent symptoms of adrenal failure in order to avoid suppression of growth.
DID YOU KNOW?
Success of treatment depends on how early the disease is detected.