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.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology