Cureus · 2025
A Case of Autoimmune Polyglandular Syndrome Type 2 in Childhood: Unraveling a Rare and Complex Endocrine Puzzle.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Tayong Felicita M, Gul Faiza, Srujana Kasagani, George Phillip, Habib Aysha, Khan Nadia, Gul Nida, Ali Ayaz
Аннотация
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.