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Diagnostic Criteria of Acute Adrenal Insufficiency

The Endocrine Society guidelines on the diagnosis and treatment of Acute Adrenal Insufficiency (AAI) defines an adrenal crisis as a medical emergency with hypotension, abdominal symptoms and laboratory abnormalities requiring emergency treatment.

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Diagnosis of Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is a disease of multiple hormonal imbalances. Mutations in CYP21A2 (the gene encoding 21-hydroxylase, a cytochrome P-450 enzyme) result in lack of 21-hydroxylase, which is required for the production of cortisol and aldosterone in the adrenal cortex. A deficiency of this enzyme has cascading effects. Reduced cortisol leads to overproduction of pituitary corticotropin, which stimulates the accumulation of cortisol precursors and their subsequent diversion through the steroid pathways that produce adrenal androgens. Today, the classic form is the most common cause of atypical genitalia in 46,XX newborns and of primary adrenal insufficiency during childhood. Continue reading “Diagnosis of Congenital Adrenal Hyperplasia”

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