Endocrine Abstracts

Introduction: Triple A syndrome is a rare multisystem autosomal recessive condition, with a classical triad of Alacrimia, achalasia, and adrenal insufficiency. We describe our patient’s clinical and genetic profile, highlighting the often-missed diagnosis due to its staggered presentation.

Case presentation: A 22-year-old male, with history of Adrenal insufficiency diagnosed at age 3 and maintained on Glucocorticoid replacement presented to our emergency room in adrenal crisis precipitated by upper respiratory tract infection. At age 3, he was evaluated for hyperpigmentation, failure to gain weight, and muscle weakness, leading to a diagnosis of ACTH-resistant Adrenal insufficiency. He experienced recurrent respiratory infections precipitating adrenal crises. The patient was cachectic, had dysmorphic facies, hyperpigmentation, generalized hyperreflexia, and noticeable intellectual disability. Additionally, he reported regurgitation and vomiting after food intake, and difficulty swallowing liquids since age 5. His parents had observed alacrimia since age 3, noting his increased tolerance to illness and lack of tears. Following stabilization of the adrenal crisis, the patient underwent barium swallow and upper gastrointestinal endoscopy, revealing achalasia cardia. Alacrimia was confirmed by Schirmer’s test (2 mm at 5 minutes) in both eyes. These clinical manifestations suggested AAA syndrome, prompting screening for other systemic involvement, revealing borderline intellect (25% disability), bilateral minimal hearing loss, orthostatic hypotension, and reduced cardiac autonomic tone. Genetic analysis confirmed a homozygous missense variant in exon 1 of the AAAS gene: c.43C>A, p.Gln15Lys. Following peroral endoscopic myotomy, his dysphagia and BMI improved. The frequency of respiratory tract infections, which precipitated recurrent adrenal crises, decreased. He is under follow-up and maintained on artificial tears, glucocorticoids, and mineralocorticoids.

Conclusion: Allgrove syndrome is underreported due to its complex, multisystem, and metachronous presentation. Our case emphasizes the need for high index suspicion of this rare syndrome and effective management of various components thereby reducing the catastrophic complications associated with the disease.