polyglandular autoimmune syndrome

BACKGROUND: Primary adrenal insufficiency (PAI) in childhood is a life-threatening disease most commonly due to impaired steroidogenesis. Differently from adulthood, autoimmune adrenalitis is a rare condition amongst PAI's main aetiologies and could present as an isolated disorder or as a component of polyglandular syndromes, particularly type 2. As a matter of fact, autoimmune polyglandular syndrome (APS) type 2 consists of the association between autoimmune Addison's disease, type 1 diabetes mellitus and/or Hashimoto's disease...

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To report the association of autoimmune polyglandular syndrome type 1 (APS1) with cone dystrophy in a large Saudi family. This is a Retrospective chart review and prospective genetic testing and ophthalmic examination of a large multiplex consanguineous family. Genetic testing was performed on 14 family members, seven of whom had detailed ophthalmic examinations. Medical history, ocular history and evaluation, visual field testing, full-field electroretinogram (ERG), and Whole Exome Sequencing (WES) results were analyzed...

A 52-year-old Japanese woman developed type 1 diabetes mellitus (type 1 DM) at 41 years old. She became complicated with Hashimoto's disease and showed swelling of both submandibular glands, which was diagnosed as IgG4-related disease (IgG4-RD). This is a rare case of a Japanese patient with autoimmune polyglandular syndrome type 3A (APS-3A) coexisting with autoimmune thyroid disease (AITD) and type 1 DM complicated by IgG4-RD. Bilateral submandibular gland resection was successfully performed without steroid therapy...

Autoimmune polyglandular syndrome type 2 (APS II) is a rare autoimmune disease that affects many endocrine glands. We present a case of a 32-year-old man with Addison's disease, autoimmune thyroiditis, and pernicious anemia. Multi-line and timely management are crucial for each association.

Multisystem inflammatory syndrome (MIS) is a well-known potential sequela of COVID-19 infection. Though prevalence is higher in certain populations, this syndrome is a rare occurrence in children. Beyond MIS, there has been increasing research into COVID infection and the subsequent onset of autoimmune conditions, such as diabetes. However, evidence of a poly-endocrinopathy developing after COVID infection is lacking, and evidence within the pediatric population is virtually nonexistent. In this case, we present the evolution of an autoimmune polyglandular syndrome (APS) type 2 phenotype, consisting of type 1 diabetes, Graves' disease, and adrenal insufficiency, after diagnosis of multisystem inflammatory syndrome of children (MIS-C) in a pediatric patient...

A 32-year-old nulliparous woman with premature ovarian insufficiency POI and autoimmune polyglandular syndrome type 2 (APS-2), presented to our fertility center with a 2.5-year history of amenorrhoea. Controlled ovarian hyperstimulation (COH), with high dose gonadotropins, failed to promote antral follicle growth. The patient was given a short, 4-week course of 2 mg dexamethasone prior to a repeat COH cycle, which resulted in the retrieval of good oocyte numbers and eventual live birth from a thawed embryo transfer...

Autoimmune polyglandular syndromes (APS) are rare disorders characterized by the coexistence of endocrine and non-endocrine dysfunctions mediated by autoimmune mechanisms. Autoimmune polyglandular syndrome type 1 is defined as coexistence of chronic mucocutaneous candidiasis, hypoparathyroidism, and autoimmune adrenal insufficiency. Addison's disease as the obligatory component is potentially life threatening.Herein, we demonstrate a case of a 44-year-old woman with APS-1 (hypoparathyroidism, adrenal insufficiency, hypergonadotropic hypogonadism) and SARS-CoV-2-induced adrenal crisis...

INTRODUCTION: Autoimmune polyendocrine syndrome (APS) type II (Schmidt's syndrome) is defined by the coexistence of autoimmune Addison's disease with autoimmune thyroid disease and/or type 1 diabetes mellitus. Patients also present with other organ specific autoimmune disorders like hypergonodotropic hypogonadism, vitiligo, chronic atrophic gastritis, pernicious anaemia, autoimmune chronic hepatitis and celiac disease. Many circulating organ-specific antibodies directed against endocrine organs...

A 67-year-old woman with a history of diabetes mellitus was admitted to our hospital with convulsions due to bilateral frontal subcortical hemorrhages. MR venography showed a defect in the superior sagittal sinus, and thrombi were demonstrated in the same lesion with head MRI three-dimensional turbo spin echo T1 -weighted imaging. She was diagnosed with cerebral venous sinus thrombosis. As precipitating factors, we found high levels of free T3 and T4, low levels of thyroid stimulating hormone, anti-thyroid stimulating hormone receptor antibody, and anti-glutamic acid decarboxylase antibody with her...

SUMMARY: Autoimmune polyglandular syndrome (APS) type 2 is characterized by the presence of Addison's disease (AD) along with autoimmune thyroid disease and/or type 1 diabetes. APS type 2 is known as Schmidt's syndrome when autoimmune adrenal insufficiency is associated with chronic lymphocytic thyroiditis. We report a very rare case of a 28-year-old female patient who had Schmidt's syndrome revealed by a thyroid storm (TS) concomitant with an acute adrenal crisis. The onset of AD resulted in a surgical emergency...

OBJECTIVE: This study aims to summarize the clinical characteristics of one teenager with autoimmune polyglandular syndrome (APS) type III C + D to improve the understanding of APS III C + D and its effect of thyroid function. METHODS: This article reported the clinical manifestations, laboratory examinations, treatment methods, and outcomes of an adolescent with anemia admitted to the Pediatrics Department of Tianjin Medical University General Hospital in July 2020 and reviewed the literature...

PURPOSE: Chronic keratoconjunctivitis is a rare presentation of autoimmune polyglandular syndrome type 1 (APS-1) during the first year of life. Herein, We report a case of a 10-month-old baby girl with chronic bilateral keratoconjunctivitis, corneal scarring and neovascularization that was treated initially with topical immunosuppressants. METHODS: Detailed ophthalmological assessment followed by molecular testing using whole exome sequencing. RESULTS: In addition to the severe chronic bilateral keratoconjunctivitis, corneal scarring and neovascularization, patient weight was found to be low than 10th percentile...

Autoimmune polyendocrine syndromes (APSs) encompass a heterogeneous group of rare diseases characterized by autoimmune activity against two or more endocrine or non-endocrine organs. Three types of APSs are reported, including both monogenic and multifactorial, heterogeneous disorders. The aim of this manuscript is to present the main clinical and epidemiological characteristics of APS-1, APS-2, and IPEX syndrome in the pediatric age, describing the mechanisms of autoimmunity and the currently available treatments for these rare conditions...

Autoimmune polyglandular syndrome type I (APS1) shows common features such as mucocutaneous candidiasis, hypoparathyroidism, and hypoadrenalism. The clinical manifestations and their onset are highly variable. Besides endocrine abnormalities, patients can present with dental problems, keratoconjunctivitis, fever, rash, chronic diarrhea, and autoimmune hepatitis. We discuss the case of a 5-year-old female who presented initially with a new-onset seizure due to severe hypocalcemia and was diagnosed with primary hypoparathyroidism...

UNLABELLED: Autoimmune polyglandular syndrome type 2 (APS-2) features autoimmune Addison's disease, autoimmune thyroid disease, and/or type 1 diabetes mellitus. Addison's disease is occasionally associated with depressive symptoms, therefore patients with APS-2 might present primarily in a psychiatric clinic. Such atypical primary presentation can possibly lead to delayed and/or inadequate diagnosis and management. CASE PRESENTATION: A 57-year-old female patient was referred to our psychiatric clinic from an internal medicine hospital presenting severe depressive symptoms...

OBJECTIVES: Autoimmune polyglandular syndrome type 2 (APS2) is characterized by autoimmune adrenal insufficiency (AI) in conjunction with autoimmune thyroid disease (AITD) and/or type 1 diabetes mellitus (T1DM). The aim is to report an 11-year-old girl with concurrence of Addison disease, celiac disease and thyroid autoimmunity. CASE PRESENTATION: She initially presented at the age of 5 with vomiting, dehydration, hyponatremia, hyperkalemia and low glucose. She recovered with intravenous hydration but the diagnosis was not established...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), also known as autoimmune polyglandular syndrome type 1 (APS-1) is a rare autosomal recessive inborn error of immunity (IEI), which is accompanied by immune dysregulation. Hypoparathyroidism, adrenocortical failure and candidiasis are its typical manifestations. Here we report about recurrent COVID-19 in a 3-year-old boy with APECED, who developed retinopathy with macular atrophy and autoimmune hepatitis after the first episode of SARS-CoV-2 infection...

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Thyroid hormones are required for the physiological growth and maintenance of hair follicles. We aim to study the thyroid profile of patients with alopecia. This is a narrative review. PubMed literature was searched from 2013 to 2022. We followed different types of alopecia: alopecia areata (AA), androgenic alopecia in males and females, telogen effluvium (TE), frontal fibrosing alopecia (FFA), lichen planopilaris, and alopecia neoplastica (AN). AA shares a common autoimmune background with autoimmune thyroid diseases, either sporadic or belonging to autoimmune polyglandular syndromes...