Supplemental Material for: Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study

Clinically, the most common initial presenting complaints were alacrima (6/23), achalasia (5/23), and adrenal insufficiency (4/23). Cumulative assessment during follow-up revealed the complete classical triad in 15/23 patients. Neurological involvement was frequent and showed an age-dependent pattern, with manifestations such as dysarthria (5/23) and autonomic dysfunction including anhidrosis (7/23); gait disturbance(8/23) was also commonly observed.

Other frequent clinical findings included hyperpigmentation (12/23), short stature (11/23), palmoplantar hyperkeratosis (6/23), and microcephaly (4/23). Mineralocorticoid deficiency was reported in 7/23 patientsbased on physician documentation, six of whom had concomitant glucocorticoid deficiency.</p><p dir="ltr"><br>Conclusion This multicenter cohort highlights the marked clinical variability ofAAAS, in-cluding progressive neurological involvement and heterogeneity in the recognition and bio-chemical presentation of mineralocorticoid dysfunction.</p>