ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P1175 | DOI: 10.1530/endoabs.63.P1175

Familial autoimmune polyglandular syndrome: a case report

Dhouha Ben Salah, Wiem Saâfi, Feten Hadj Kacem, Fatma Mnif, Kawthar El Arbi, Mouna Elleuch, Nadia Charfi, Mouna Mnif, Nabila Rekik & Mohamed Abid


Hedi Chaker Hospital, Department of Endocrinology, Sfax, Tunisia.


Introduction: Autoimmune polyglandular syndrome (APS) is an autoimmune disorder that affects many endocrine glands. Until now four categories of APS are identified: APS-I includes at least two out of: mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. APS-II, the most frequent, comprises of Addison’s disease, autoimmune thyroid disease and/or type 1 diabetes. APS-III is defined by the presence of autoimmune thyroid disease and other autoimmune disorders, type 1 diabetes (IIIa), biermer disease (IIIb) and alopecia (IIIc) and the absence of Addison’s disease and hypoparathyroidism, while PAS IV includes non-endocrine autoimmune disorders and Addison’s disease, but not hypothyroidism.

Presentation: We describe a case of a 40 years old man born of non-consanguineous parents who is followed in our endocrinolgy departement for a probable autoimmune polyendocrine syndrome; association of type 1 diabetes and hyperthyroidism.The patient’s medical family history includes a total of four siblings: a sister with vitiligo a brother with type 1 diabetes and vitiligo and a brother with adrenocortical insufficiency, hypoparathyroidism and type 1 diabetes. His father, had type 2 diabetes and hypertensien. His mother had type 2 diabetes and hypothyroidism. For our patient we report the onset of type 1 diabetes in 1993, at the age of twelve, with reccurent hospitalisations due to diabetic ketoacidosis. The most recent in january 2019. For this patient adrenocortical insufficiency was suspected in 2010 but excluded by a normal Synacthen test. We report the onset of hyperthyroidism in 2017. He is suspected to be a case of autoimmune polyendrocrine syndrome type 3 (APS3).

Discussion: In this case, the patient and his family’s medical history is full of autoimmune involevement that leads us to think of familal APS. However in this case we find different associations of autoimmune diseases, particulary the sibling with the association of surrenal insufficiency and Hypoparathyroidism that can be classified as APS-I. Anyhow for our patient APS-III is more probable. This variation in presentation within the same family makes the diagnosis of APS and its classification challenging.

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