Hereditary adrenocorticotropic hormone (ACTH) unresponsiveness is a condition where the adrenal cortex fails to release glucocorticoids after exposure to ACTH.


Inheritance: autosomal recessive or X-linked recessive


Clinical features in infants:

(1) feeding problems

(2) failure to thrive

(3) regurgitation and/or vomiting


Clinical features in children and adolescents:

(1) hyperpigmentation

(2) hypoglycemic episodes

(3) severe response to stress or illness

(4) excessive height for age

(5) autonomic dysfunction (loss of tear production, cold extremities, achalasia, pupillary dysfunction, abnormal histamine skin test)

(6) seizures

(7) hypotension

(8) vomiting and diarrhea

(9) lethargy

(10) sudden death


Laboratory findings:

(1) decreased serum levels of cortisol

(2) failure of glucocorticoids to increase following administration of ACTH

(3) normal serum levels of mineralocorticoids

(4) normal serum electrolyte concentrations

(5) normal response to sodium restriction

(6) increased serum ACTH

(7) increased insulin sensitivity (hypoglycemia triggered by small insulin doses)


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