Background: Autoimmune polyglandular syndromes (APS) is a group of heterogeneous conditions characterized by the association of at least two organ-specific disorders, concerning both endocrine and non-endocrine organs. On the basis of the clinical features, they are divided into four main types. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition divided into subtypes A, B and C.
Objective and hypotheses: We describe a 16-year old female patient with the family history of thyroid diseases in her mother (hyperthyroidism) and aunt (hypothyroidism), and Addisons disease in her grandmother who has simultaneously developed the symptoms of autoimmune thyroid disease with the clinical picture of hyperthyroidism (emotional lability, irritability, decreased concentration, weight loss, hand tremor) and myasthenia gravis (decreased physical activity tolerance, ptosis, swallowing difficulties, voice change) at the age of 15.
Results: The autoimmune thyroid disease (Graves disease as indicated in the further laboratory investigation) was recognized about 2 months before myasthenia. Co-existence of those diseases allow us to diagnose APS type IIIc. After a few months we have discovered positive GAD-Ab (whilst blood sugar levels remain normal and without DM symptoms). No evidence of other autoimmune condition was observed. In this patient the standard GB and MG treatment was administered. When the CT scan revealed thymus enlargement, thymectomy was performed. After the surgery we observe not only MG remission, but a significant decrease of TRAb as well.
Conclusion: Our patients case confirms that, even in already diagnosed APS, the organ-specific Ab screening can help identify other latent and subclinical autoimmune diseases before patients develop clinical symptoms. The case also indicates the possibility to achieve post-thymectomy remission of not only MG but other APS components.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology