Since the first description by Allgrove at al. Triple A syndrome (Allgrove syndrome) was reported rarely with an estimated prevalence of 1 in 1,000,000 individuals. It is a progressive degenerative disease comprising absent tear production (alacrima), achalasia of cardia, and adrenal insufficiency, caused by mutations in AAAS gene on chromosome 12q13. ALADIN protein is a part of nuclear pore complex with significant functional implications in many tissues. We present a 9-year 9-month old girl presenting with hypoglycemic seizures and hyperpigmentation, later found to have adrenal insufficiency. Upon investigations alacrima, and partial optic atrophy were found and Allgrove syndrome was suspected. Interestingly our case was not associated with the common presentation of achalasia, but has primary hypothyroidism which is rarely reported in association. Genetic report revealed a homozygous mutation in exon 6 of AAAS gene causing truncating protein production confirming the diagnosis. Allgrove syndrome is often diagnosed late, emphasizing the need for a high index of suspicion for alacrima and glucocorticoid insufficiency symptoms. Thorough biochemical and radiological investigations are recommended in suspected cases. Genetic testing can aid in diagnosis and provide valuable information for genetic counseling and follow-up planning. The syndrome presents with a wide range of symptoms, including achalasia, adrenal insufficiency, alacrima, and various neurological manifestations. This case highlights the importance of recognizing and managing the multisystemic features of the syndrome.

Keywords: Allgrove syndrome; AAA Syndrome; Alacrima; Achalasia; 4A Syndrome; Aladin Protein