Endocrine Abstracts

Introduction: Polyglandular Autoimmune Syndromes (PAS) are a group of diseases characterized by the association of different endocrine and non-endocrine autoimmune pathologies. Although the diagnosis of PAS is more frequent in adulthood, it can occur in pediatric age, with PAS type 3 being the most frequent.

Objective: To study the prevalence and characteristics of PAS in the pediatric population of a tertiary center.

Methods: Retrospective analysis of the clinical files of patients with type 1 diabetes mellitus, autoimmune thyroid disease (ATD), Celiac Disease (CD) and Addison’s disease (AD) followed in a Pediatric Endocrinology consultation from 1 January 2010 to 31st December 2020.

Results and Conclusions: Of the 879 cases consulted, 35 patients with PAS were identified, 27 female, with a mean age at diagnosis of 7.8±4.9 years, mean time elapsed between the 1st and 2 nd manifestation of 50.2± 44.3 months and 37.1% had a family history of autoimmune disease. Regarding classification, 3 patients had PAS type 2, 9 patients PAD type 3A, 14 patients PAS type 3C and 9 patients PAS type 4. In the group of PAS type 2 patients (2 males), all had ATD (2 Hashimoto’s thyroiditis and 1 Graves’ disease). Among patients with PAS type 3 (22 females), 24 had ATD, 9 DM1, 9 CD, 3 Vitiligo, 1 Autoimmune Hepatitis and 1 Systemic Lupus Erythematosus. CD was the first manifestation in 9 patients, DM1 in 6, DAT in 5, Vitiligo in 2 and Autoimmune Hepatitis in 1.Regarding PAS type 4 (5 females), all patients had DM1 and CD, the former representing the first diagnosis in 88.9% of cases.

Conclusion: PAS are rare among the pediatric population. In this sample, all patients were diagnosed with PAS type 2, type 3 or type 4, with the majority being female. The variable clinical presentation is consistent with what is described in the literature, as well as the high prevalence of a family history of autoimmune diseases. Frequently, the time interval until the diagnosis of a second endocrinopathy can be long (decades), which demonstrates the importance of active surveillance of patients with autoimmune diseases.