Adrenal Insufficiency as the First Manifestation of Triple A Syndrome: A Case Report

Background: Triple A syndrome is a rare, underdiagnosed autosomal recessive disorder presenting as alacrima, achalasia and adrenal insufficiency, typically in that order; however, in our case, it presented in a different sequence. Case presentation: A 5-year-old Caucasian Colombian girl presented with weakness, asthenia, fatigue, anorexia and progressive hyperpigmentation of skin for 6 months without sun exposure. Basal serum cortisol was very low (0.61 µg/dL) and Adrenocorticotropic Hormone (ACTH) was elevated (> 1,250 pg/mL), confirming the diagnosis of primary adrenal insufficiency. Hydrocortisone therapy was started with progressive depigmentation of the skin. Six months later she presented with dysphagia and Allgrove syndrome was suspected. The analysis of the AAAS gene revealed a homozygous missense mutation in exon 12. Conclusion: Triple A syndrome should be suspected in children who presented with primary adrenal failure without a known cause.