ArticleCureus2026
The Clinical and Biological Characterization of Triple A Syndrome (Allgrove Syndrome) in 12 Pediatric Patients.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Introduction Allgrove syndrome, also known as triple A (3A) syndrome, is a rare autosomal recessive disorder characterized by the association of achalasia, alacrima, adrenal insufficiency, and neurological manifestations. It is caused by the functional impairment of the nucleoporin ALADIN due to mutations in the AAAS gene. Data from African countries remain limited. We present the clinical profile, biochemical findings, management, and outcomes of 12 children with triple A syndrome who were admitted to a Moroccan tertiary care hospital. Methods This retrospective cohort study included 12 children diagnosed with Allgrove syndrome and followed in the Pediatric Endocrinology Department of Abderrahim Harouchi Mother and Child Hospital, Ibn Rochd University Hospital, Casablanca, Morocco, over a period of 14 years (January 2012 to January 2026). Diagnosis was based on at least two components of the clinical triad, supported by biological and radiological findings. Clinical, biological, radiological, and follow-up data were collected from the patients' medical records. Results The median age at diagnosis was 4.3 years (interquartile range (IQR): 3.5-6). Adrenal insufficiency was the presenting feature in all patients. Alacrima was present in all cases and represented the earliest symptom, with a median age of onset of one year (IQR: 0-3). Dysphagia was observed in seven (58.3%) patients, with a median age at onset of four years (IQR: 3-5). All patients received hydrocortisone replacement therapy. Mineralocorticoid deficiency was identified in two (16%) cases. Four patients underwent Heller myotomy with fundoplication, with favorable outcomes. Conclusions Alacrima was the earliest and most consistent clinical feature in our cohort, while adrenal insufficiency represented the main presenting manifestation. Prompt recognition of these findings is crucial to facilitate early diagnosis and improve patient outcomes, particularly in resource-limited settings.
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