Autoimmune polyglandular syndrome type 2: a case report

Abstract

Introduction. Autoimmune polyglandular syndromes are classified into two major subtypes, each characterized by involvement of specific endocrine glands. The autoimmune polyglandular syndrome type 2 is defined by the presence of at least two of the following endocrinopathies: Addison’s disease, type 1 diabetes mellitus and autoimmune thyroiditis. Other autoimmune diseases belonging to the syndrome are: primary hypogonadism, myasthenia gravis, celiac disease, pernicious anemia, alopecia, vitiligo. The prevalence of APS-2 is estimated to be 1 : 20.000 in the general population. Case statement. This study focuses on a complex case of Autoimmune Polyglandular Syndrome Type 2 (APS-2) in a 54-year-old female, characterized by: chronic autoimmune thyroiditis with hypothyroidism; followed by classic clinical findings for primary adrenocortical insufficiency which led to the diagnosis of Addison disease, and secondary amenorrhea at the age of 39, likely due to autoimmune primary ovarian insufficiency (POI). Hormone replacement therapy was initiated. Subsequently symptoms of hyperglycemia occurred in the context of excessive administration of glucocorticoids and steroid diabetes was diagnosed. C peptide value was within the normal reference values. Metformin was initiated, but glycemic control progressively worsened which questioned diagnosis. Elevated glutamic acid decarboxylase (GAD) antibodies >1000 were determined and the diagnosis of type 1 diabetes was established. Discussions. This is a clinical study presenting a challenging case of autoimmune polyglandular syndrome type 2 involving 4 endocrinopathies in a 54 years old woman. The interplay between the thyroid, ovarian, and pancreatic dysfunctions underscores the need for an integrated diagnosis and treatment approach. The development of type 1 diabetes mellitus and Addison disease in a patient with Hashimoto thyroiditis typifies the unpredictable nature of autoimmune disorders and the challenge in achieving optimal endocrine balance. Occurrence of secondary amenorrhea in a woman below the age of 40 should raise awareness of autoimmune POI, which may occur as part of type 2 APS. The patient’s response to treatment, particularly the stabilization of glycemic levels, highlights the effectiveness of personalized management strategies. The study emphasizes the progressive nature of APS-2 as well as the diagnostic challenges which illustrate the condition's multifaceted nature and the critical role of personalized approach in diagnosis and management. Conclusion. The study highlights the rapidly progressive nature of untreated APS-2 and the critical role of personalized treatment plans, including hormone replacement and glycemic control. characterized by involvement of specific endocrine glands. The autoimmune polyglandular syndrome type 2 is defined by the presence of at least two of the following endocrinopathies: Addison’s disease, type 1 diabetes mellitus and autoimmune thyroiditis. Other autoimmune diseases belonging to the syndrome are: primary hypogonadism, myasthenia gravis, celiac disease, pernicious anemia, alopecia, vitiligo. The prevalence of APS- 2 is estimated to be 1 : 20.000 in the general population. Case statement. This study focuses on a complex case of Autoimmune Polyg landular Syndrome Type 2 (APS-2) in a 54-year-old female, characterized by: c hronic autoimmune thyroiditis with hypothyroidism; followed by classic clinical findings for pr imary adrenocortical insufficiency which led to the diagnosis of Addison disease, and seconda ry amenorrhea at the age of 39, likely due to autoimmune primary ovarian insufficiency (POI). Hor mone replacement therapy was initiated. Subsequently symptoms of hyperglycemia occurred in the context of excessive administration of glucocorticoids and steroid diabetes was diagnosed. C peptide value was within the normal reference values. Metformin was initiated, b ut glycemic control progressively worsened which questioned diagnosis. Elevated glutamic acid de carboxylase (GAD) antibodies >1000 were determined and the diagnosis of type 1 diabetes was e stablished. Discussions. This is a clinical study presenting a challenging case of autoimmune polyglandular syndrome type 2 involving 4 endocrinopathies in a 54 years old woma n. The interplay between the thyroid, ovarian, and pancreatic dysfunctions undersc ores the need for an integrated diagnosis and treatment approach. The development of type 1 diabetes mellitus and Addison disease in a patient with Hashimoto thyroiditis typifies the unpredictable nature of autoimmune disorders and the challenge in achieving optimal endocrine balance. Occurrenc e of secondary amenorrhea in a woman below the age of 40 should raise awareness of autoimmune POI, which may occur as part of type 2 APS. The patient’s response to treatment, parti cularly the stabilization of glycemic levels, highlights the effectiveness of personalized management str ategies. The study emphasizes the progressive nature of APS-2 as well as the diagnostic ch allenges which illustrate the condition's multifaceted nature and the critical role of personalize d approach in diagnosis and management. Conclusion. The study highlights the rapidly progressive nature of untr eated APS-2 and the critical role of personalized treatment plans, including h ormone replacement and glycemic control.