ESPE2024 Poster Category 1 Adrenals and HPA Axis 3 (8 abstracts)
Triple A syndrome: A common cause of primary adrenal insufficiency in Algeria
Kahina Mohammedi 1,2 , Asmahane Ladjouze 3,2 , Yasmine Ouarezki 4,2 , Adel Djermane 4,2 , Mohammed Demdoum 5 , Sakina Kherra 6,2 , Kamélia Boulesnane 3,2 , Dalila Douiri 7,2 , Amar Tebaibia 8,2 , Delphine Mallet 9,10 , Clément Janot 9,10 , Jordan Teoli Teoli 9,10 , Ouardia Ibsaine 1,2 , Zair Bouzerar 3,2 & Florence Roucher-Boulez 9,10
1Service de Pédiatrie, EPH Ain Taya, Algiers, Algeria. 2Faculté de Médecine d'Alger, Algiers, Algeria. 3Service de Pédiatrie CHU Bab EL Oued, Algiers, Algeria. 4Service de Pédiatrie, EPH Belfort, Algiers, Algeria. 5Cabinet libéral, El Oued, Algeria. 6Service de Pédiatrie CHU Parnet, Algiers, Algeria. 7Service de pédiatrie, EPH Bouloughine, Algiers, Algeria. 8Service de Médecine interne, EPH Birtraria, Algiers, Algeria. 9Molecular Endocrinology and Rare Diseases, Hospices Civils de Lyon, Lyon, France. 10Université Lyon1, Lyon, France
Background: Triple A syndrome (AAAS, OMIM#231550) is a very rare inherited disease characterized by the association of chronic adrenal insufficiency, achalasia, alacrima and central and peripheral neurological disorders. It is caused by mutations in the AAAS gene which encodes the nuclear pore complex scaffolding protein ALADIN. The relative prevalence and genotype of AAAS in the Maghreb countries has not been ascertained.
Objectives: To estimate the prevalence, clinical and hormonal features, genetic findings and outcomes of patients AAAS in our population.
Material and methods: Clinical data were collected retrospectively from the medical records of patients attending in six centers of pediatric endocrinology in Algeria between 2007 and 2024. AAAS syndrome diagnosis suspected clinically was confirmed by hormonal investigations. Genetic testing was performed for patients and parents after obtaining written informed consent.
Results: Of 135 children and adolescents with non-congenital adrenal hyperplasia primary adrenal insufficiency (non-CAH PAI), 45 (33.3%) were diagnosed with Triple A syndrome, rendering it the most common cause of non-CAH PAI (Second most common cause of PAI after congenital adrenal hyperplasia). The 45 patients (19 Female, 26 Male) were from 31 families with AAAS. Parents were consanguineous in 27 (60%) cases, there was a family history of unexplained sibling death in 14 patients (31.82%). Mean±SD (range) age at diagnosis was 5.16±3.58 (0.01–15) years. Mean ± SD heights and BMI at diagnosis and at last examination were respectively (WHO 2007 data): -1.4 ± 1.29 SDS/-2.01± 1.36 DS (p: 0,004), and -0.81 ± 1.41 SDS/-1.63± 1.7 SDS (p:0,006): Likely due to more severe achalasia and difficulty feeding. 39 patients (86.67%) were initially diagnosed because of adrenal insufficiency: 27 with isolated glucocorticoid deficiency, 12 with combined glucocorticoid and mineralocorticoid deficiency. All patients had alacrima, 41 (93.18%) had achalasia treated by balloon dilation; 11 patients also required myotomy. 7 patients had neurological disorders at diagnosis (15.56%) and 28 patients (65.12%) during follow-up. Genetic analysis of the AAAS gene was performed for 15 patients and the most frequent mutations in our population were: mutation c.1331+1G>A.
Conclusion: Although rare, AAAS is the most frequent cause of adrenal insufficiency after 21 hydroxylase deficiency in our country. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Unfortunately, it remains a cause of an explained death in young undiagnosed children.
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