An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature

Myrto Bonataki; Eirini Dikaiakou; Panagiota Anastasopoulou; Stefanos Fakiolas; Maria Kafetzi; Elpis Athina Vlachopapadopoulou

doi:10.1515/jpem-2022-0619

Artikel

An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature

Myrto Bonataki , Eirini Dikaiakou , Panagiota Anastasopoulou , Stefanos Fakiolas , Maria Kafetzi und Elpis Athina Vlachopapadopoulou

Veröffentlicht/Copyright: 15. März 2023

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Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 36 Heft 5

Abstract

Objectives

Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity.

Case presentation

She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established. She presented again at the age of 11 with hyperpigmentation, weakness and signs of impending adrenal crisis. Diagnosis of autoimmune AI was established together with celiac disease and thyroid autoimmunity. Thus, she met criteria for APS, being the third pediatric case report of APS2 with this combination.

Conclusions

This case is notable for the atypical age of onset, given that APS2 is rare in the pediatric population. Furthermore, it depicts the insidious course of Addison disease with symptoms fluctuating for years before diagnosis.

Keywords: addison disease; adrenal autoantibodies; autoimmune polyglandular syndrome; children

Corresponding author: Elpis Athina Vlachopapadopoulou, Pediatrician-Endocrinologist, Director, Department of Endocrinology Growth and Development, Children’s Hospital “P. & A. Kyriakou”, 13, Levadeias street, 11527 Athens, Greece, Phone: 0030 2132009851, E-mail: elpis.vl@gmail.com

Research funding: None declared.
Author contributions: (I) Conception and design: Eirini Dikaiakou, Elpis Athina Vlachopapadopoulou; (II) Collection and assembly of data: Myrto Bonataki, Eirini Dikaiakou; (III) Data analysis and interpretation: M. Kafetzi, S. Fakiolas, E. Vlachopapadopoulou; (IV) Manuscript writing: All authors; (V) All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: The local Institutional Review Board deemed the study exempt from review.

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Received: 2022-12-11

Accepted: 2023-02-17

Published Online: 2023-03-15

Published in Print: 2023-05-25

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Artikel in diesem Heft

https://doi.org/10.1515/jpem-2022-0619

Schlagwörter für diesen Artikel

addison disease; adrenal autoantibodies; autoimmune polyglandular syndrome; children