Background: PEA is a rare disease characterised by the coexistence of two endocrine autoimmune deficiencies, sometimes with a non-endocrine autoimmune disease associated concomittente of occurrence or metachronous way. Depending on the age of onset of the disease and the characteristics observed, we can distinguish several subgroups.
Objective and hypotheses: Search frequency of PEA in children and adolescents and study their phenotype.
Method: This is a retrospective study of children and adolescents with PEA. All patients underwent a clinical examination, paraclinical exploration looking autoimmune diseases. Annual reassessments were performed.
Results: 16 cases have been reported: 87.5% (14/16) PEA II, 12.5% PEA I. The age at diagnosis was 4 and 8 years in type 1 (both male) and 12 years (818) in type 2 (No sex predominance).The diabetes mellitus 1 was revealing PEA 2 with concomitant discovery (n=4) or metachronous (6) of autoimmune thyroiditis and other autoimmune diseases (adrenal insufficiency n: 2 pernicious anemia n: 1autoimmune oophoritis n: 3 hypoparathyroidism n: 1 after a mean of 12 years. adrenal insufficiency was revealing in type 1. Mucocutaneous candidiasis was present in two children with the hypoparathyroidism at diagnosis in the eldest but only appeared three years later in the younger. No other disease was observed (mean of 6 years). The PEA family were found in 25%. Therapeutically, monitoring was difficult with glycemic control poor in all cases of diabetic (Mean H A1C 8.6%), several ketotic decompensation and acute adrenal in case of adrenal insufficiency.
Discussion and conclusion: PEA is rare in children and are represented by PEA 1. Adrenal insufficiency is indicative in the majority of cases. PEA 2 can appear during adolescence. It combines Addisons disease and autoimmune thyroid disease and/or diabetes type 1. Illnesses that caused increased morbidity.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology