Autoimmune polyglandular syndrome is characterized by the coexistence of several autoimmune diseases, affecting predominantly the endocrine glands. Autoimmune polyglandular syndrome type III, as a subdivision of autoimmune polyglandular syndrome type II, is the co-occurrence of autoimmune thyroid disease with other autoimmune disorders without Addison disease. We present a rare case of autoimmune polyglandular syndrome type III in monozygotic twins. One of the twins also had autoimmune leukopenia. To our knowledge, leukopenia is the first mentioned coexistence in the literature of autoimmune polyglandular syndrome.
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Arch Pediatr
January 2025
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia.
Background: Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening condition. Congenital adrenal hyperplasia (CAH) is the most common cause of PAI in children. To date, numerous non-CAH causes have been identified through genetic analysis but they remain poorly characterized.
View Article and Find Full Text PDFUnlabelled: Autoimmune regulator (AIRE), a transcription factor expressed by medullary thymic epithelial cells, is required for shaping the self-antigen tolerant T cell receptor repertoire. Humans with mutations in suffer from Autoimmune Polyglandular Syndrome Type 1 (APS-1). Among many symptoms, men with APS-1 commonly experience testicular insufficiency and infertility, but the mechanisms causing infertility are unknown.
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December 2024
Internal Medicine, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT.
Autoimmune polyglandular syndromes (APS) are characterized by associations of two or more autoimmune diseases (AID). APS type 3 is characterized by the presence of autoimmune thyroid disease associated with other AID, excluding adrenal gland involvement. Here we report a case of a 64-year-old male, with history of type 1 diabetes mellitus (T1DM), diagnosed at the age of 32, who was referred to a Diabetes consultation in 2014 due to poor metabolic control.
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December 2024
Division of Internal Medicine, Unidade Local de Saúde de Braga, Braga, PRT.
Autoimmune polyglandular syndrome type 3 (APS-3) is an uncommon condition marked by autoimmune thyroid disease (ATD) linked with other autoimmune issues, excluding Addison's disease. We report a case of a 41-year-old man who was hospitalized due to exhaustion and macrocytic anemia, later diagnosed with APS-3, which included Hashimoto's thyroiditis, pernicious anemia resulting from autoimmune gastritis, and pre-existing vitiligo. Diagnostic results indicated positive intrinsic factor antibodies, a gastric biopsy compatible with gastritis, elevated thyroid peroxidase antibodies, and significant findings from a thyroid ultrasound.
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January 2025
Department of Ophthalmology and Visual Sciences, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.
A 35-year-old woman with thyroid eye disease (TED) was found to have autoimmune polyglandular syndrome type II (APS-II) 1 year after developing symptoms of this rare syndrome, during which she underwent 8 emergency department visits before receiving a targeted endocrinology workup. Thyroid disease is the second most common autoimmune syndrome associated with APS-II after primary adrenal insufficiency. Identification of this syndrome is critical as it can be life-threatening if left untreated.
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