The adrenocorticotropic hormone (ACTH) insensitivity
syndrome is an inherited disorder, but in a small minority it is an acquired
abnormality induced by the formation of antibodies that block ACTH
receptors. In contrast to Addison syndrome, the
renin-angiotensin-aldosterone axis functions normally.
Double A Syndrome; Adrenocorticotropic Insensitivity
Autosomal recessive. Consists of several rare
disorders with absent or markedly impaired adrenal response to ACTH. Most
likely a variant of the Allgrove syndrome as shown by haplotype analysis.
Dysfunction or absence of ACTH receptors caused by
a genetic defect or an acquired anomaly that induces formation of antibodies
that block ACTH receptors.
Based on the clinical findings of absent tears,
dysphagia, and failure to thrive in infancy.
Absent tears in combination with achalasia. The
disorder must be differentiated from Allgrove or Triple A Syndrome
(achalasia, alacrima, ACTH deficiency). Autonomic dysfunction has been
reported as evidenced by electrophysiologic studies. Megaesophagus may
Check serum concentrations of
electrolytes (mineralocorticoid deficiency), blood glucose, and ACTH. Obtain
a history of vomiting, reflux, and dysphagia. Check for signs of autonomic
A rapid sequence induction technique is
recommended because of the increased risk for gastroesophageal reflux. The
likelihood of corneal abrasions is increased because of lack of tears.
Possibility exists for autonomic dysfunction and cardiovascular instability
in the absence of ACTH receptors.
No known specific implication with
Allgrove Syndrome: Inherited disease characterized by the
triad of ACTH-resistant insufficiency, achalasia, and alacrima. It presents
in the first decade of life with severe hypoglycemic episodes that may
result in death. A mixed pattern of upper and lower motor neuropathy,
sensory impairment, autonomic neuropathy, and mental retardation has been
Nussinson E, Hager H, Samara M, et al: Familial achalasia with absent
tear production. J Pediatr Gastrenterol Nutr