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Autoimmune Polyendocrine Syndrome Type II

Alberto Falorni, Annalisa Brozzetti, Roberto Perniola
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...
2016: Frontiers of Hormone Research
Abdul Latif Khattak, Abdul Latif Khatak, Waqar Ali, Salman Saleem, Zameer Ahmad Nayyer, Muhammad Idris, Mohammad Idrees, Naseer Ahmad Khan, Nayyer Ahmad, Waseem Pasha
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...
April 2015: Journal of Ayub Medical College, Abbottabad: JAMC
A K Azad, M S Islam, S L Quayum
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...
January 2015: Mymensingh Medical Journal: MMJ
Subodh Banzal, Abhishek Singhai
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...
May 2014: Indian Journal of Critical Care Medicine
Atilla Cayir, Ragıp Ismail Engin, Mehmet Ibrahim Turan, Erdal Pala
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...
July 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
Corrado Betterle, Riccardo Scarpa, Silvia Garelli, Luca Morlin, Francesca Lazzarotto, Fabio Presotto, Graziella Coco, Stefano Masiero, Anna Parolo, Maria Paola Albergoni, Roberta Favero, Susi Barollo, Monica Salvà, Daniela Basso, Shu Chen, Bernard Rees Smith, Jadwiga Furmaniak, Franco Mantero
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...
December 2013: European Journal of Endocrinology
Yusuf Karavelioglu, Ahmet Baran, Hekim Karapinar, Zekeriya Küçükdurmaz, Ahmet Yilmaz
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.
2013: Internal Medicine
Marta Toni García, Emma Anda Apiñániz, Juan Pablo, Martínez de Esteban, Patricia Munárriz Alcuaz, María José Goñi Iriarte, Lluís Forga Llenas
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...
December 2008: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
Antonella Meloni, Nick Willcox, Anthony Meager, Michela Atzeni, Anette S B Wolff, Eystein S Husebye, Maria Furcas, Maria Cristina Rosatelli, Antonio Cao, Mauro Congia
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...
April 2012: Journal of Clinical Endocrinology and Metabolism
Niels C Pedersen, Hongwei Liu, Daniel L Greenfield, Layle Griffioen Echols
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...
January 15, 2012: Veterinary Immunology and Immunopathology
H A Adissu, A Hamel-Jolette, R A Foster
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...
November 2010: Veterinary Pathology
Alberto Falorni, Annalisa Brozzetti, Daria La Torre, Cristina Tortoioli, Giovanni Gambelunghe
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...
July 2008: Expert Review of Clinical Immunology
Mohammed H Alghamdi, Michelle Steinraths, Constadina Panagiotopoulos, James E Potts, George G S Sandor
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...
August 2010: Pediatric Cardiology
A W Michels, G S Eisenbarth
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...
May 2009: Journal of Internal Medicine
Tingsong Lim, Hironori Murakami, Kentaro Hayashi, Hiroki Watanabe, Haruki Sasaki, Harutatsu Muto, Yoshikazu Asano, Kenjiro Miyamoto, Yasuhiro Omoto, Yasukazu Yamaguchi, Mitsugu Hirokami, Shigemichi Tanaka
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.
April 2009: Journal of Cardiology
Emma Lindh, Sara M Lind, Evelina Lindmark, Signe Hässler, Jaakko Perheentupa, Leena Peltonen, Ola Winqvist, Mikael C I Karlsson
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...
November 25, 2008: Proceedings of the National Academy of Sciences of the United States of America
Corrine K Welt
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...
2008: Annals of the New York Academy of Sciences
C Lipowsky, B A Schorl-Schweikardt, Oth Kehl, M Brändle
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...
January 23, 2008: Praxis
D Y Aksoy, K Ağbaht, O Harmanci, O Karadağ, K Aytemir, A Sungur, A M Onat, S Apraş, B O Yildiz, M Bayraktar
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...
February 2008: American Journal of the Medical Sciences
Annika E Stenberg, Lisskulla Sylvén, Håkan Hedstrand, Olle Kämpe, Malou Hultcrantz
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...
2007: Journal of Negative Results in Biomedicine
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