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一例儿童自身免疫性多内分泌腺综合征2型:解开一个罕见且复杂的内分泌谜团。

A Case of Autoimmune Polyglandular Syndrome Type 2 in Childhood: Unraveling a Rare and Complex Endocrine Puzzle.

作者信息

Tayong Felicita M, Gul Faiza, Srujana Kasagani, George Phillip, Habib Aysha, Khan Nadia, Gul Nida, Ali Ayaz

机构信息

General Surgery, Tulane University School of Medicine, New Orleans, USA.

College of Medicine, University of Science, Arts and Technology, Olveston, MSR.

出版信息

Cureus. 2025 Jul 9;17(7):e87595. doi: 10.7759/cureus.87595. eCollection 2025 Jul.

Abstract

Autoimmune polyendocrine syndrome type 2 (APS-2) is a rare autoimmune disorder characterized by the coexistence of multiple endocrine gland dysfunctions, most commonly type 1 diabetes mellitus (T1DM), autoimmune thyroid disease, and Addison's disease. It typically manifests in middle-aged women, with pediatric cases being exceedingly uncommon. We present the case of a nine-year-old boy with a known history of T1DM diagnosed at the age of six years, who presented to the emergency department with severe hypoglycemia and was subsequently found to have severe hypothyroidism. Clinical features included growth retardation, coarse facial features, alopecia, developmental delay, and hepatomegaly. Laboratory investigations confirmed severe hypothyroidism alongside his known T1DM, fulfilling the diagnostic criteria for APS-2. The patient was managed with levothyroxine replacement and close glycemic monitoring. This case highlights the importance of considering APS-2 in pediatric patients with multiple autoimmune conditions, emphasizing the need for early recognition and comprehensive endocrine evaluation to guide appropriate management and improve long-term outcomes.

摘要

2型自身免疫性多内分泌腺综合征(APS-2)是一种罕见的自身免疫性疾病,其特征是多种内分泌腺功能障碍并存,最常见的是1型糖尿病(T1DM)、自身免疫性甲状腺疾病和艾迪生病。它通常在中年女性中表现出来,儿科病例极为罕见。我们报告一例9岁男孩的病例,该男孩6岁时被诊断为T1DM,因严重低血糖就诊于急诊科,随后被发现患有严重甲状腺功能减退症。临床特征包括生长发育迟缓、面部粗糙、脱发、发育延迟和肝肿大。实验室检查证实他除了已知的T1DM外还患有严重甲状腺功能减退症,符合APS-2的诊断标准。该患者接受了左甲状腺素替代治疗和密切的血糖监测。本病例强调了在患有多种自身免疫性疾病的儿科患者中考虑APS-2的重要性,强调了早期识别和全面内分泌评估以指导适当管理并改善长期预后的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5885/12333465/479779f86ba7/cureus-0017-00000087595-i01.jpg

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