ESPE Abstracts (2019) 92 P3-180

Multisystem Endocrine Disorders

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

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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.

Volume 92

58th Annual ESPE meeting

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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