Ergun ÇETİNKAYA, Zehra AYCAN, Ebru GÖZER, Ebru PETEK, Ayşe Esin KİBAR

Early recognition of polyglandular autoimmune syndrome type II

Anahtar Kelimeler:

Otoimmün hastalıklar, Poliendokrinopatiler, otoimmün, Addison hastalığı, Çocuk, Kadın

Polyglandular autoimmune syndromes (PGA) are uncommon constellations of organ-specific autoimmune diseases, characterized by the existence of more than one autoimmune disease in an affected individual. PGA type II (Schmidt’s Syndrome) is characterized by the association of autoimmune Addison’s disease with thyroid autoimmune diseases and/or type 1 diabetes mellitus. Here, we report a 12.5 years old girl who applied to our clinic with the complaint of hyperpigmentation of the skin, malaise for the last 5 months and also suffering from dizziness and excessive sweating. Adrenal insufficiency was thought to be the diagnosis. Further laboratory tests revealed an increased basal ACTH level, and a blunted cortisol response to ACTH stimulation. Autoantibodies against thyroid and adrenal gland were elevated. Therefore, she was diagnosed as PGA type II autoimmune thyroiditis and autoimmune Addison’s disease. Polyglandular autoimmune syndrome type II which usually being in older age groups, is very rare at this age. Early recognition of these components of the syndrome and replacement therapy can be life saving, particularly when there is adrenal or thyroid insufficiency.

Keywords:

Autoimmune Diseases, Polyendocrinopathies, Autoimmune, Addison Disease, Child, Female,

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1. Neufeld M, Mac Laren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann 1980;9:154-63.

2. Hügle B, Döllman R, Keller E, Kiess W. Addison’s crisis in adolescent patients with previously diagnosed diabetes mellitus as manifestation of polyglandular autoimmune syndrome type II-Report of two patients. J Pediatr Endocrinol Metab 2004;17: 93-7.

3. Muir A, She JX. Advances in the genetics and immunology of autoimmune polyglandular syndrome II/III and their clinical applications. Ann Med Interne 1999; 150:301-12.

4. Betterle C, Dal Pra C, Montero F, Zanchetta R. Autoimmune adrenal insufficiency and autoimmune polyendocrine syndromes: autoantibodies, autoantigens, and their applicability in diagnosis and disease prediction. Endocrinol Rew 2002 ; 23: 237-364.

5. Falorni A, Lauretti S. Adrenal autoimmunity and correlation with adrenal dysfunction. The Endocrinologist 2000; 10:145-54.