Autoimmune Polyendocrine Syndrome Type II

Autoimmune Addison's disease (AAD) is a complex disease that results from the interaction of a predisposing genetic background with still unknown environmental factors. Pathogenic variants in the autoimmune regulator (AIRE) gene are responsible for autoimmune polyendocrine syndrome type 1, of which AAD is a major disease component. Among the genetic factors for isolated AAD and autoimmune polyendocrine syndrome type 2, a key role is played by HLA class II genes: HLA-DRB1*0301-DQA1*0501-DQB1*0201 and DRB1*04-DQA1*0301-DQB1*0302 are positively, and DRB1*0403 is negatively, associated with genetic risk for AAD...

In polyglandular autoimmune (PGA) syndromes, there is immune dysfunction of two or more endocrine glands. Immunity mediated disorders of non-endocrine organs may also be seen. These syndromes are of two main types: type I and type II. We are reporting this case of a 32 years old lady who presented initially with hypothyroidism for many years and received thyroid replacement therapy. After that she was married and had children. After an interval of about seven years of the initial diagnosis of hypothyroidism, she was hospitalized in first trimester of pregnancy for severe vertigo, syncopal episodes and hypotension...

Autoimmune polyglandular syndrome also known as autoimmune polyendocrine syndrome (APS) type II is characterized by the presence of Addison's disease, in association with autoimmune thyroid disease and/or type I diabetes mellitus. Here a 14 year old girl is reported with Addison's disease, autoimmune hypothyroidism and primary hypogonadism. Autoimmune polyendocrine syndrome (APS) type II occurs most often in middle aged female and is quite rare in children but one should think to autoimmune polyglandular syndrome type II in patient at any age especially in patients with Addison's disease...

Autoimmune polyendocrine syndrome Type II (APS II), also known as polyglandular autoimmune syndrome Type II or Schmidt syndrome, is constellations of multiple endocrine gland insufficiencies. It is a rare, but most common of the immunoendocrinopathy syndrome. It is characterized by the obligatory occurrence of autoimmune Addison's disease in combination with thyroid autoimmune diseases and/or Type I diabetes, hypogonadism, hypophysitis, myasthenia gravis, vitiligo, alopecia, pernicious anemia, and celiac disease...

Autoimmune polyglandular syndrome (APS) is a rarely diagnosed condition characterized by a combination of two or more organ-specific autoimmune diseases and divided into a very rare juvenile (APS type I) and a relatively common adult type (APS II-IV). The major components of APS-I are hypoparathyroidism, adrenal failure, and mucocutaneous candidiasis. In addition to the classic triad, many other autoimmune diseases could be associated with the syndrome. We report an adolescent patient with psoriasis vulgaris and APS-I...

OBJECTIVE: Addison's disease (AD) is a rare endocrine condition. DESIGN: We aimed to evaluate clinical, immunologic, adrenal imaging, and genetic features in 633 Italian patients with AD followed up since 1967. METHODS: Adrenal cortex autoantibodies, presence of other autoimmune and nonautoimmune diseases, nonadrenal autoantibodies, adrenal imaging, and genetic profile for HLA-DRB1 and AIRE were analyzed. RESULTS: A total of 492 (77...

Recovery of the ventricular function in a patient with cardiomyopathy is very rare. Autoimmune polyendocrine syndrome is also very rare. We herein report a case of reversed cardiomyopathy associated with autoimmune polyendocrine syndrome type II (Schmidt's syndrome) composed of Addison's disease, vitiligo and Hashimoto's thyroiditis. The ventricular function and size were reversed following the administration of suitable hormone replacement therapy for polyendocrine syndrome.

Autoimmune polyendocrine syndrome type II (APS-II) is the most common immunoendocrinopathy syndrome. APS-II is defined by the development of two or more of the following entities: primary adrenal insufficiency (Addison's disease), Graves' disease, type 1A diabetes mellitus, autoimmune thyroiditis, primary hypogonadism, celiac disease, and myasthenia gravis. Other frequent clinical findings are vitiligo, alopecia, pernicious anemia and/or serositis. Primary adrenal insufficiency in these patients affects the adrenal cortex, which is destroyed by autoantibodies against 21-hydroxylase...

CONTEXT: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene, including the distinctive R139X in Sardinia. Its rarity and great variability in manifestations/onset ages make early diagnosis difficult. To date, very few longitudinal studies of APS1 patients have been reported. OBJECTIVE: The aim of this study was to describe the features and clinical course of APS1 and correlate them with AIRE and HLA class II genotypes in a large homogeneous cohort of Sardinian patients followed for up to 25 yr...

A disorder manifested by multiple autoimmune disorders, and resembling autoimmune polyendocrine syndrome type 2 (APS-2) in humans, may exist in Italian Greyhounds. The incidence of this disorder is increasing and its potential impact on the health of the breed is becoming of great concern. The aims of the present study were to document the existence of this syndrome, conduct a preliminary assessment of genetic diversity across the breed and within affected and unaffected dogs, determine whether the disorder associates with the dog leukocyte antigen (DLA) complex, and demonstrate similarities to APS-2 of humans...

A 4.5-year-old spayed female Great Pyrenees with hypothyroidism and hypoadrenocorticism had a slightly enlarged pituitary gland and bilaterally atrophic adrenal and thyroid glands. Lymphocytic adenohypophysitis and adrenalitis were found in which B lymphocytes and plasma cells dominated the adenohypophysitis but T cells dominated the adrenalitis. The thyroid gland had extensive follicular atrophy and collapse. The combination of primary hypothyroidism and hypoadrenocorticism resembles type II autoimmune polyendocrine syndrome or Schmidt syndrome in humans...

Autoimmune Addison's disease (AAD) is a complex genetic disease that results from the interaction of a predisposing genetic background with as yet unknown environmental factors. The disease is marked by the appearance of circulating autoantibodies against steroid 21-hydroxylase. Mutations of the autoimmune regulator gene are responsible for the so-called autoimmune polyendocrine syndrome type I (APS I), of which AAD is a major disease component. Among genetic factors for isolated AAD and APS II, a major role is played by HLA class II genes: HLA-DRB1 0301-DQA1 0501-DQB1 0201 and DRB1 04-DQA1 0301-DQB1 0302 are positively, and RB1 0403 is negatively, associated with a genetic risk for AAD...

Both primary pulmonary artery hypertension (PPAH) and autoimmune polyendocrine syndrome (APS) are rare disorders in children. We report a boy who was diagnosed with severe PPAH at 12 years of age. He was treated with prostacyclin for 6 years, briefly with adjunct bosentan, and eventually sildenafil was added. Six years later, after his diagnosis of PPAH, he developed APS in the form of hyperthyroidism and type 1 diabetes mellitus. No mutations were identified through genetic testing of bone morphogenetic protein receptor type II and the autoimmune-regulator gene...

Autoimmune polyendocrine syndromes type 1 and 2 (APS-1 and APS-2) are diverse in regards to their component diseases and immunologic features of pathogenesis. Animal models and human studies highlight the importance of alleles of HLA (human leukocyte antigen)-like molecules determining tissue specific targeting that with the loss of tolerance leads to organ specific autoimmunity. Knowledge of the syndromes and component diseases allows clinicians to recognize and prevent illness prior to morbidity. With the current understanding of the syndromes, a paradigm for diagnosis, screening and treatment can be established...

Takotsubo cardiomyopathy (TCM) is a poorly understood condition in which patients with chest pain have a transient ampulla-shaped abnormality of the left ventriculogram, and intact coronary arteries. We report TCM in combination with autoimmune polyendocrine syndrome type II (APS II), which raises new questions about the pathogenesis of TCM.

Autoimmune polyendocrine syndrome type I (APS I) results in multiple endocrine organ destruction and is caused by mutations in the autoimmune regulator gene (AIRE). APS I is characterized by circulating tissue-specific autoantibodies, and the presence of these antibodies is often predictive of organ destruction. The importance of AIRE in ensuring central tolerance by regulating the negative selection of autoreactive T cells has been shown clearly. However, in Aire(-/-) mice the phenotype (i.e., autoantibodies, liver infiltrates of B cells, splenomegaly, and marginal zone B-cell lymphoma) is predominantly B-cell mediated, suggesting an exaggerated activation of B cells...

Autoimmune oophoritis presents in adolescents as a component of autoimmune polyendocrine syndrome type I or type II. Autoimmune oophoritis can be diagnosed in women with primary ovarian insufficiency in the presence of adrenal cortical or steroid cell antibodies, and/or antibodies to adrenal and ovarian steroidogenic enzymes. The ovaries are cystic macroscopically, with a lymphocytic infiltrate in the steroidogenic theca cells. The immune infiltrate results in low estradiol levels and a compensatory increase in FSH levels...

We report on a 19-year-old woman with polyglandular autoimmune syndrome type II (APS II). She was diagnosed with addison's disease and hypothyroidism due to chronic autoimmune thyroiditis. Her mother had celiac disease and her brohter had diabetes mellitus typ 1. Chronic autoimmune thyroiditis was diagnosed in her mother, subsequently. In patients and their relatives, who have autoimmune disorders, a search for autoimmune polyglandular syndrome is crucial. Consequently, it would be appropriate that the patient and all family members are asked for clinical signs and symptoms of autoimmune disorders...

Atrial septal defect is frequently reported with genetic syndromes. But, to the best of our knowledge, it has not been reported with autoimmune polyendocrine syndrome. Here, the case of a 44-year-old-woman with concomitant involvement of the salivary gland, thyroid, intestines, and, possibly endocrine pancreas, diagnosed with autoimmune polyendocrine syndrome type II, is reported with accompanying atrial septal defect. Celiac disease, Hashimoto thyroiditis, and Sjögren syndrome were symptomatic and laboratory confirmed diagnosis; anti-glutamic acid decarboxylase antibody was positive but asymptomatic for type-1 diabetes...

BACKGROUND: A disturbance in the immune system has been described in Turner syndrome (45,X), with an association to low levels of IgG and IgM and decreased levels of T- and B-lymphocytes. Also different autoimmune diseases have been connected to Turner syndrome (45,X), thyroiditis being the most common. Other autoimmune diseases seen are inflammatory bowel disease, insulin dependent diabetes mellitus, Addison's disease, rheumatoid arthritis, myasthenia gravis, vitiligo, alopecia, pernicious anaemia and hypoparathyroidism, but the association to Turner syndrome is not definite...