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Diagnosis of adrenal insufficiency in children

Diagnosis of adrenal insufficiency in children
CAH: congenital adrenal hyperplasia; CNS: central nervous system; ACTH: adrenocorticotropic hormone; AHC: adrenal hypoplasia congenita; ALD: adrenoleukodystrophy; AMN: adrenomyeloneuropathy; 17OHP: 17-hydroxyprogesterone; PRA: plasma renin activity.
* Another consideration is cystic fibrosis, which can present with dehydration, hyponatremia, and hypokalemia (unlike the other disorders listed, which are associated with hyperkalemia).
¶ Mineralocorticoid deficiency is indicated by hyponatremia and elevated PRA, with or without.
Δ Refer to UpToDate content on classic CAH for diagnostic testing and differential diagnosis.
◊ Triple A syndrome and familial glucocorticoid deficiency are rare disorders of adrenal unresponsiveness to ACTH. Patients usually have isolated glucocorticoid deficiency and not mineralocorticoid deficiency, so the clinical presentation usually is similar to central adrenal insufficiency rather than primary adrenal insufficiency. However, unlike in central adrenal insufficiency, hyperpigmentation is almost always present.
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