Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review
BackgroundAutoimmune polyendocrine syndrome type 2 (APS-2) is a rare disorder characterized by autoimmune damage to multiple endocrine glands and typically involves primary adrenal insufficiency (PAI), autoimmune thyroid disease (AITD), and type 1 diabetes mellitus (T1DM). Clinical presentations tha...
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Frontiers Media S.A.
2025-05-01
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| author | Zihong Yao Zihong Yao Hui Chen Xuejian Hu Dan Ge Xiangyu Xu Danxia Xu |
| author_facet | Zihong Yao Zihong Yao Hui Chen Xuejian Hu Dan Ge Xiangyu Xu Danxia Xu |
| author_sort | Zihong Yao |
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| description | BackgroundAutoimmune polyendocrine syndrome type 2 (APS-2) is a rare disorder characterized by autoimmune damage to multiple endocrine glands and typically involves primary adrenal insufficiency (PAI), autoimmune thyroid disease (AITD), and type 1 diabetes mellitus (T1DM). Clinical presentations that feature the full triad alongside adrenal crisis (AC) are rare, with only four such cases reported globally. While AC is the most life-threatening acute complication of APS-2, its pathogenesis is complex and incompletely understood. While there are multiple potential triggers, the role of exogenous substances such as traditional Chinese medicine [TCM] has not been systematically examined.Case presentationA 69-year-old female was hospitalized with a 9-year history of increasing fatigue, which had recently worsened due to high fever, anorexia, and vomiting lasting 2 days. She has previously been diagnosed with T1DM (nine years prior) and AITD (five years prior). Four years earlier, she underwent thymoma resection. Three years before admission, she self-administered an unknown TCM remedy that coincided with increased fatigue and mucocutaneous hyperpigmentation. On admission, she was in hypovolemic shock and severe hyponatremia (118.0 mmol/L). Laboratory tests revealed low basal cortisol (2.38 μg/dL) and markedly elevated adrenocorticotropic hormone (>1250 pg/mL). An adrenocorticotropic hormone stimulation test confirmed non-responsive adrenal function, indicating PAI. Together with her medical history and positive antibody profile, APS-2 with AC was diagnosed. She responded well to high-dose intravenous glucocorticoid therapy, sodium supplementation, and symptomatic management. Although persistent hyponatremia recurred following discharge, it resolved following fludrocortisone acetate supplementation, and her condition remained stable at the last follow-up.ConclusionWe report the fifth case of full-triad APS-2 with AC and document a 9-year diagnostic delay due to non-specific symptoms with asynchronous multi-glandular involvement. Thyroxine replacement therapy and potential TCM-induced changes may have aggravated cortisol metabolism and immune imbalances, hastening adrenal failure. Clinicians should implement stepwise organ-function monitoring in patients with any single-gland autoimmune disease, maintain vigilance for exogenous medication use, and implement multidisciplinary management strategies to mitigate the risk of AC. This case provides critical insights into both the pathogenesis and clinical management of APS-2. |
| format | Article |
| id | doaj-art-c1af27c3dbeb44e3a137df214e482833 |
| institution | OA Journals |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Immunology |
| spelling | doaj-art-c1af27c3dbeb44e3a137df214e4828332025-08-20T02:05:24ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-05-011610.3389/fimmu.2025.15636291563629Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature reviewZihong Yao0Zihong Yao1Hui Chen2Xuejian Hu3Dan Ge4Xiangyu Xu5Danxia Xu6The Second Clinical Medical College, Lanzhou University, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaDepartment of Endocrinology and Metabolism, Lanzhou University Second Hospital, Lanzhou, Gansu, ChinaBackgroundAutoimmune polyendocrine syndrome type 2 (APS-2) is a rare disorder characterized by autoimmune damage to multiple endocrine glands and typically involves primary adrenal insufficiency (PAI), autoimmune thyroid disease (AITD), and type 1 diabetes mellitus (T1DM). Clinical presentations that feature the full triad alongside adrenal crisis (AC) are rare, with only four such cases reported globally. While AC is the most life-threatening acute complication of APS-2, its pathogenesis is complex and incompletely understood. While there are multiple potential triggers, the role of exogenous substances such as traditional Chinese medicine [TCM] has not been systematically examined.Case presentationA 69-year-old female was hospitalized with a 9-year history of increasing fatigue, which had recently worsened due to high fever, anorexia, and vomiting lasting 2 days. She has previously been diagnosed with T1DM (nine years prior) and AITD (five years prior). Four years earlier, she underwent thymoma resection. Three years before admission, she self-administered an unknown TCM remedy that coincided with increased fatigue and mucocutaneous hyperpigmentation. On admission, she was in hypovolemic shock and severe hyponatremia (118.0 mmol/L). Laboratory tests revealed low basal cortisol (2.38 μg/dL) and markedly elevated adrenocorticotropic hormone (>1250 pg/mL). An adrenocorticotropic hormone stimulation test confirmed non-responsive adrenal function, indicating PAI. Together with her medical history and positive antibody profile, APS-2 with AC was diagnosed. She responded well to high-dose intravenous glucocorticoid therapy, sodium supplementation, and symptomatic management. Although persistent hyponatremia recurred following discharge, it resolved following fludrocortisone acetate supplementation, and her condition remained stable at the last follow-up.ConclusionWe report the fifth case of full-triad APS-2 with AC and document a 9-year diagnostic delay due to non-specific symptoms with asynchronous multi-glandular involvement. Thyroxine replacement therapy and potential TCM-induced changes may have aggravated cortisol metabolism and immune imbalances, hastening adrenal failure. Clinicians should implement stepwise organ-function monitoring in patients with any single-gland autoimmune disease, maintain vigilance for exogenous medication use, and implement multidisciplinary management strategies to mitigate the risk of AC. This case provides critical insights into both the pathogenesis and clinical management of APS-2.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1563629/fullautoimmune polyendocrine syndrome type 2adrenal insufficiencyadrenal crisishypothyroidismdiabetes mellitus |
| spellingShingle | Zihong Yao Zihong Yao Hui Chen Xuejian Hu Dan Ge Xiangyu Xu Danxia Xu Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review Frontiers in Immunology autoimmune polyendocrine syndrome type 2 adrenal insufficiency adrenal crisis hypothyroidism diabetes mellitus |
| title | Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review |
| title_full | Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review |
| title_fullStr | Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review |
| title_full_unstemmed | Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review |
| title_short | Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review |
| title_sort | delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis a case report and literature review |
| topic | autoimmune polyendocrine syndrome type 2 adrenal insufficiency adrenal crisis hypothyroidism diabetes mellitus |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1563629/full |
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