A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue

Smith, Ryan Kenneth; Gerrits, Peter M.

There is a peak incidence between 20 and 60 years of life, with the third or fourth decades being the most common. 3, 5, 6 In contrast to APS type 1, which has an association with a defect in the AIRE gene, APS type 2 is associated with genetic abnormalities of class II HLA alleles. 3,6,7 APS type 2 has a male-to-female ratio of 1:3 and is relatively common with an incidence of 1-2:10 000/year. 5 Given predilection to concomitant diseases, regular surveillance is crucial to screen for other conditions. 7 Clinical signs of adrenal insufficiency include hypoglycemia, hyperpigmentation, hyponatremia, hyperkalemia, and hypotension. 1 Symptoms are nonspecific, including fatigue, weakness, nausea, vomiting, abdominal pain, anorexia, myalgias, and salt craving. 1 As such, diagnosis begins with a high index of suspicion. Laboratory studies consistent with primary insufficiency includes elevated early morning ACTH, elevated plasma renin activity, low aldosterone, hyponatremia, and hyperkalemia. 1 Whereas ACTH is elevated in primary insufficiency, ACTH is low or normal in secondary and tertiary insufficiency. 1 An early morning cortisol level with a level <3 µg/dL is suggestive of adrenal insufficiency. 3 The "gold standard" cosyntropin (synthetic ACTH) stimulation test is often used for diagnosis, wherein synthetic ACTH is administered intravenously, with cortisol level checked 30 and 60 minutes after administration. [1] [2] [3] Cortisol levels <14 µg/ dL are positive. 1,3 Diagnosis of specific APS syndromes is achieved by screening for each individual disease process suspected. 5