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oai:figshare.com:article/33981754 2026-09-28T03:20:38Z category_7 portal_147 item_type_3 month_year_09_2026

Supplemental Material for: Clinical and genetic heterogeneity of Triple A syndrome: a multicenter study figshare admin karger (2628495) Aslıhan Kiraz (25103776) Zakhiriddin Khojakulov (25103778) Ayse Caglar Sarılar (25103781) Muserref Basdemirci (25103782) Elif Yılmaz Gulec (25103784) Ozlem Oz (9970951) İrem Kalay (25103785) Mustafa Dogan (4529869) Bilgen Bilge Geckinli (25103788) İpek Sahin (25103790) Mustafa Yaqubi (25103793) Leyla Nur Yılmaz (25103795) Elifcan Tasdelen (25103796) Aslı Cıplaklıgil (25103797) Alper Gezdirici (5687564) Friederike Quitter (25103803) Esra Hilal Ceylan (25103804) Aydeniz Aydın Gumus (25103807) Katrin Koehler (721018) Abdulkerim Kolkıran (25103809) Firdevs Dincsoy Bir (25103812) Tulay Guran (10524386) Hasan Onal (18718720) Angela Huebner (702742) Nazlı Ayse Basak (25103815) Munis Dundar (10056664) Medicine Medicine <p dir="ltr">Introduction Triple A syndrome (AAAS) is a rare autosomal recessive neuroendocrinedisorder caused by pathogenic variants in the AAAS gene and characterized by marked clinical hete-rogeneity.<br></p><p dir="ltr">Methods In this multicenter retrospective study, we analyzed 23 patients from 18 families di-agnosed across nine centers in Türkiye to characterize the molecular and clinical features of AAAS. Six distinct variants in the AAAS gene were identified in this cohort, with truncating variants predominating.</p><p dir="ltr"><br>Results The most frequent variant was c.1066_1067delCT (p.Leu356Valfs*8), detected in 7 of 18 families, followed by the nonsense variant c.1432C>T (p.Arg478*), identified in 6 fami-lies. 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> 2026-09-28T03:20:38Z Dataset Dataset 10.6084/m9.figshare.33981754.v1 https://figshare.com/articles/dataset/Supplemental_Material_for_Clinical_and_genetic_heterogeneity_of_Triple_A_syndrome_a_multicenter_study/33981754 CC BY 4.0