MON-484 Adrenal Insufficiency as the First Manifestation of Triple A Syndrome, Case Report

Abstract Disclosure: W. Morales: None. V. Leal: None. D. Ramirez: None. S. Awadalla: None. IntroductionTriple A syndrome, or Allgrove syndrome (AS), is a rare entity with an autosomal recessive inheritance pattern that was first described by Allgrove in 1978 and is characterized by the presence of a classic triad of adrenal insufficiency, achalasia and alacrimia. Allgrove's syndrome results from mutations of the AAAS gene located on chromosome 12q13 that encodes a nuclear envelope protein known as ALADIN (alacrimia-achalasia-adrenal insufficiency neurological) and is highly expressed in different human tissues. Adrenal insufficiency and achalasia are usually evident by the end of the first decadence and neurological dysfunction follows later Case Report:A 5-year-old girl was referred to our endocrine unit centre for the evaluation of weakness, asthenia, fatigue, anorexia and progressive hyperpigmentation of skin for 6 months without sun exposure. She was born full-term, from non-consanguineous parents. 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. & 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: Tripe A syndrome should be suspected in children who presented with primary adrenal failure without a known cause. Presentation: Monday, July 14, 2025