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FAMILIAL GLUCOCORTICOID DEFICIENCY
It is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH.
This is an inherited disorder with several different causes which define the type. Newborns can present with irritability, jitteriness, respiratory
distress, cyanosis, apnea, hypotonia, or seizures. A history of failure to thrive, poor feeding, and absence of weight gain, lethargy, and
recurrent or severe infections due to glucocorticoid deficiency suggest familial glucocorticoid deficiency (FGD).
HOW IS FAMILIAL GLUCOCORTICOID DEFICIENCY DIAGNOSED?
Prenatal diagnosis may be performed in case of family history. Endocrinologists may order for clinical tests that detect the level of serum morning cortisol levels. Genetic testing confirms diagnosis
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?
The treatment for this problem is lifelong and if not monitored correctly, this is a disease that could prove to be fatal in the long run.