ESPE Abstracts (2014) 82 P-D-3-3-648

Genetically Proven APS Type 1 in Two Siblings

Desislava Yordanova, Elisaveta Stefanova, Krasimira Kazakova, Zdravka Todorova & Mihaela Dimitrova


Endocrinology Department, University Children’s Hospital, Sofia, Bulgaria


Background: APS type 1 is characterized by an autosomal recessive inheritance. The clinical diagnosis is based on the presence of at least two of the three following diagnostic criteria: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune adrenal insufficiency. Patients often develop other autoimmune diseases. APS type 1 is caused by mutations in the AIRE gene which encodes the AIRE protein. The protein probably acts as a transcription factor.

Case: A 10-year-old girl with hypoparathyroidism from the age of 3 years. One year later she developed dystrophic nail changes, mucocutaneous candidiasis, and alopecia areata. The girl presented to us with adrenal insufficiency when she was 4 years and 9 months. From the age of 5 years she was also found to have autoimmune thyroiditis with normal thyroid function. Her treatment includes 1,25-dihydroxy calciferol, magnesium, hydrocortisone, and fludrocortisone. We also evaluated her 6-year-old brother, born without the recommended prenatal diagnosis. He is with hypoparathyroidism since he was 3 years old. From the age of 4 years the boy also has dystrophic nail changes, mucocutaneous candidiasis, and alopecia areata. His therapy is with 1,25-dihydroxy calciferol and magnesium. In January, 2014 molecular–genetic analysis of the AIRE gene was performed in the two siblings and it indicated the presence of a homozygous mutation in exon 6 of the AIRE gene. The results confirm the clinical diagnosis of APS type 1. Their parents are heterozygous carriers of the same mutation.

Conclusion: Mutation analysis of the AIRE gene will help in early diagnosis of the disease and prevention of serious and fatal complications. In our case the disease has an early onset and rapid manifestation of the autoimmune diseases.

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