Um caso particular de síndrome poliglandular autoimune tipo 2

Oliveira, Eduardo Aguiar; Ribeiro, Eduardo Santos; Dantas, Rosa; Guimarães, Joana; Geraldo, Pires

doi:10.1016/j.rpedm.2013.06.002

Cited by 2 publications

(9 citation statements)

References 7 publications

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“…Embora seja uma doença influenciada por múltiplos genes, está principalmente associada à presença dos antígenos HLA DR3 e HLA DR4, com um padrão de herança aparentemente autossômico dominante e penetrância incompleta [8,9].…”

Section: Alémunclassified

Síndrome Poliglandular Autoimune Tipo 2: Relato De Caso

Do Nascimento,

Falcão,

De Castro

et al. 2023

Rev. Contemp.

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A síndrome poliglandular, também conhecida como síndrome poliglandular autoimune (SPGA), é um conjunto de doenças endócrinas autoimunes que afetam múltiplas glândulas endócrinas no corpo humano. Essa condição é caracterizada pela disfunção e destruição gradual de diversas glândulas, levando a uma produção insuficiente ou excessiva de hormônios essenciais para o funcionamento adequado do organismo. Este trabalho teve por objetivo descrever o caso de paciente com SPGA tipo 2 que teve inicialmente o diagnóstico de diabetes mellitus tipo I. No âmbito deste caso clínico faz-se uma revisão sobre o diagnóstico e terapêutica de SPGA tipo 2. As síndromes poliglandulares autoimunes (SPGA) são caracterizadas pela presença de duas ou mais doenças autoimunes endócrinas, associadas a doenças autoimunes não endócrinas. A SPGA tipo 2, a forma mais comum das SPGA, é uma doença rara de origem poligênica que afeta principalmente mulheres adultas. Essa síndrome é definida pela presença de doença de Addison associada a doença tireoidiana autoimune e/ou diabete mellitus tipo 1. Geralmente, outras doenças autoimunes, tanto endócrinas quanto não endócrinas, também podem estar associadas. A paciente em questão apresentou quadro clinico de vômitos intensos, diarreia, fraqueza generalizada, anorexia e alterações hidroeletrolíticas. Pelo quadro descrito compatível com insuficiência adrenal primária, disfunção tireoidiana autoimune e diabetes mellitus tipo I assumiu-se o diagnóstico de Síndrome Poliglandular Autoimune tipo 2 em 2018.

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Section: Alémunclassified

Síndrome Poliglandular Autoimune Tipo 2: Relato De Caso

Do Nascimento,

Falcão,

De Castro

et al. 2023

Rev. Contemp.

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“…4,5 Polyglandular autoimmune syndromes type II is rare, with a prevalence of 1.4 to 2.0 cases per 100,000 individuals, and affects predominantly middle-aged women. 4,6,7 The syndrome expresses an autosomal dominance pattern with incomplete penetrance and has been associated with human leukocyte antigen (HLA)-DR3 and/or HLA-DR4 haplotypes that increase genetic susceptibility. 4,7,8 Polyglandular autoimmune syndromes type II (, or Schmidt syndrome, is characterized by the occurrence of Addison disease (100% of cases) along with diabetes mellitus type 1 and/or autoimmune thyroid disease.…”

Section: Introductionmentioning

confidence: 99%

“…4,6,7 The syndrome expresses an autosomal dominance pattern with incomplete penetrance and has been associated with human leukocyte antigen (HLA)-DR3 and/or HLA-DR4 haplotypes that increase genetic susceptibility. 4,7,8 Polyglandular autoimmune syndromes type II (, or Schmidt syndrome, is characterized by the occurrence of Addison disease (100% of cases) along with diabetes mellitus type 1 and/or autoimmune thyroid disease. 5,7,9,10 In addition, PGA-II can be associated with less frequent manifestations (4-11% of cases), such as vitiligo, gastritis, hypogonadism, hepatitis, and alopecia areata.…”

Section: Introductionmentioning

confidence: 99%

“…4,7,8 Polyglandular autoimmune syndromes type II (, or Schmidt syndrome, is characterized by the occurrence of Addison disease (100% of cases) along with diabetes mellitus type 1 and/or autoimmune thyroid disease. 5,7,9,10 In addition, PGA-II can be associated with less frequent manifestations (4-11% of cases), such as vitiligo, gastritis, hypogonadism, hepatitis, and alopecia areata. Rare autoimmune conditions (frequency < 1%) include myasthenia gravis, rheumatoid arthritis, and Sjögren syndrome.…”

Section: Introductionmentioning

confidence: 99%

“…8 The most frequent clinical combinations of PGA-II are Addison disease and Hashimoto thyroiditis. 7 The treatment for PGA-II involves therapeutic measures that target the pathology of the autoimmunities as they appear separately, and prognosis been related to the recognition of adrenal insufficiency, which is primarily responsible for significant morbidity and mortality. 8 The aim of the present study is to report a rare case of a 23-year-old female patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.…”

Section: Introductionmentioning

confidence: 99%

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Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report

Cottas

Borges

Oliveira

et al. 2018

Rev Bras Ginecol Obstet

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Polyglandular autoimmune syndrome type II (PGA-II) is a rare immunoendocrinopathy syndrome characterized by the occurrence of autoimmune Addison disease along with diabetes mellitus type 1 and/or autoimmune thyroid disease. Here, we report the case of a 23-year-old female with PGA-II who was followed up at the dermatology and endocrinology clinics of the Universidade Federal do Triângulo Mineiro, located in the state of Minas Gerais, Brazil. First, the patient presented diffuse skin hyperpigmentation, vitiligo; and in sequence, due to vomiting, appetite and weight loss, hypoglycemia, amenorrhea, and galactorrhea, the patient was then diagnosed with PGA-II. The patient also presented intense hyperprolactinemia due to primary hypothyroidism. The late diagnosis of PGA-II is frequent because the disorder is uncommon and has non-specific clinical manifestations. This report emphasizes the significance of a timely diagnosis and appropriate treatment to reduce morbidity and mortality associated with these diseases, especially Addison disease. The present study reports a rare case of a patient with PGA-II with primary amenorrhea associated with hyperprolactinemia.

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Um caso particular de síndrome poliglandular autoimune tipo 2

Cited by 2 publications

References 7 publications

Síndrome Poliglandular Autoimune Tipo 2: Relato De Caso

Síndrome Poliglandular Autoimune Tipo 2: Relato De Caso

Primary Amenorrhea Associated with Hyperprolactinemia in Polyglandular Autoimmune Syndrome Type II: A Case Report

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