Objective: Isolated adrenocorticotropic hormone (ACTH) deficiency is characterized by loss of adrenocorticotropic hormone, resulting in adrenal insufficiency, which can lead to life threatening severe hypoglycemia. We report a case of isolated ACTH deficiency with emphases on presentation, common etiologies, diagnosis, and management. Methods: The clinical course in addition to laboratory and imaging results are presented. These include cortisol level, ACTH, other pituitary hormones, insulin tolerance test, pituitary antibodies, and pituitary magnetic resonance imaging. Results: A 19-year-old male was brought by ambulance to the emergency department with loss of consciousness and a random blood sugar of 30 mg/dL. Our patient had a barely detectable level of plasma ACTH repeatedly and cortisol <1 μg/dL. There was no involvement of other pituitary hormones. Steroid replacement therapy led to resolution of all symptoms and prevented further episodes of hypoglycemia. Conclusion: Isolated ACTH deficiency is a rare condition that is challenging to diagnose and can lead to serious life-threatening problems if unrecognized. Proper management can be achieved with appropriate hydrocortisone supplementation to mimic the normal secretion under both normal conditions and during a state of stress.
Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis: Table 1
