ESPE Abstracts

Introduction: Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare hereditary disorder with autoimmun manifestations affecting both endocrine and non-endocrine tissues. It is caused by mutations in the autoimmune regulatory (AIRE) gene which is defined by the presence of two of the three major components: Chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and Addison’s disease. Clinical manifestations may be developed during early years of life and may continuous throughout decades. Moreover, the syndrome also includes many other autoimmune diseases such as type 1 diabetes mellitus, idiopatic trombositopenic purpura, pernicious anemia, chronic active hepatitis, vitiligo, alopesia, Hashimoto thyroiditis and sistemic lupus eritematosus. Here, we present a case with APECED from a consangineus family, who had mucocutaneous candidiasis, hypoparathyroidism, Addison’s disease, Hashimoto thyroiditis, pernisious anemia and trombositopenia.

Case report: Our case was a six years old boy who was presented to our outpatient endocrinology clinic with nause and vomiting, fatique, hypopigmentation, constipation and diarrhea attackes. He had a convulsion due to hypocalcemia and hypoparathyroidism. On physical examination, he had mucocutaneous candidiasis, alopesia, teeth-nail deformations and normal vital signs. On laboratory examination, anemia, trombositopenia, hypoglycemia and hyponatremia were determined. The results of ACTH stimulating test confirmed primary adrenal insuffiency. Genomic DNA from the periferal blood lymphocytes was extracted with QIA amp DNA Blood Mini Kit (Qiagen GMBH, Hilden, Germany) using standard procedures. AIRE gene mutation analyses has demostrated a homozygous missense mutation p.Arg15 His (c.44G>A) in exon 1. Mutation analyses of the both parents have revealed heterozygous mutation p.Arg15 His (c.44G>A) in exon 1.

Conclusion: Although first clinical manifestation of APECED usually begin in childhood, appearence order of other components might be delayed to make diagnosis more challenging. In case, patients might be undiagnosed or misdiagnosed. Clinicians should be aware of this antity in terms of endocrine and non endocrine problems, because of the broad clinical spectrum. In many cases, the diagnosis should be considered presenting at least one of the major clinical manifestations because of its high morbidity and mortality.