ESPE Abstracts (2019) 92 P3-180

APECED Syndrome in Childhood: Rare Clinical Presentations to Keep in Mind

Aslihan Arasli Yilmaz1, Selin Elmaoğullari1, Nursel Muratoğlu Şahin1, Şenay Savaş Erdeve1, Zehra Aycan2, Semra Çetinkaya1


1Dr.Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital, Pediatric Endocrinology Department, Ankara, Turkey. 2Ankara University Medicine Faculty, Pediatric Endocrinology Department, Ankara, Turkey


Introduction: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hormone deficiency and autoimmune asplenia.

Case: A 12.5-year-old male patient diagnosed with hypoparathyroidism in another center and whose previously unidentified IVS3-3C> G (c.464-3C> G) homozygote mutation in the AIRE gene was referred to our clinic. When he presented with a history of mouth trush and fatigue when he was eight years old; it was learned that calcitriol treatment was started with the diagnosis of hypoparathyroidism In physical examination; his body weight was 35.9 kg (-1.86 SDS), height 140 cm (-2.65 SDS), diffuse vitiligo, hypopigmentation in the hair, photophobia, and 8 ml testes. The patient was admitted for further screening. Hashimoto thyroiditis-euthyroid phase (no goiter / nodule), primary adrenal insufficiency (Cortisol: 8.1 µg/dL, ACTH: 568 pg / ml), autoimmune hemolytic anemia (Coombs positive anemia), autoimmune asplenia (USG spleen was not observed, scintigraphy, non-function spleen), autoimmune hypophysitis (infundibulum thick / pituitary heterogeneous) and growth hormone deficiency were detected. Hydrocortisone, growth hormone treatment, penicillin prophylaxis, protective vaccination program was started.

Conclusion: APECED syndrome has a wide clinical spectrum. Keeping rare clinical presentations in mind will reduce the morbidity and mortality of the disease.

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