Sindrome poliglandular autoinmune tipo iii-c asociado con vitiligo; reporte de caso en honduras

Los síndromes poliglandulares autoinmunes son una serie de anomalías funcionales que causan desregulación inmunitaria y afectan a múltiples glándulas endocrinas del organismo. Las patologías crónicas en un paciente adulto no siempre son independientes una de otra, sino más bien, múltiples presentaciones clínicas con un origen en común. Presentamos el caso de una paciente femenina de tercera edad, con antecedentes de vitÍligo, alopecia, hipertensión arterial y diabetes mellitus tipo 2, acude a consulta por presentar astenia, adinamia y somnolencia de aproximadamente 10 meses de evolución, al examen físico biotipo pícnico, mixedema, piel seca más bocio, laboratorio reporta TSH (12 UI/ml), T4 libre (0.2 ng/dl), Anti TPO 168.70 UI/ml, USG que determina bocio tiroideo y patrón micro nodular, se hace el diagnóstico de tiroiditis de Hashimoto. Es así que el análisis de los antecedentes patológicos junto al padecimiento actual, nos permitieron diagnosticar un síndrome poli glandular autoinmune tipo III-C.

Polyglandular autoimmune syndromes (PAS) are a series of functional anomalies that can cause immunitary deregulation affecting multiple endocrine glands. Chronic pathologies in adult patients are not always independent from one another, but rather, are unique defects with multiple clinical presentations.We report an elderly female patient with a history of vitiligo, alopecia, hypertension and type 2 diabetes mellitus who came into a consultation for asthenia, adynamia and drowsiness for approximately 10 months. The physical exam showed a pyknic biotype, myxedema, dry skin and goiter.Test results show TSH (12 lU/ml), free T4 (0. 2 ng/dl), Anti TPO 168.70 lU/ml, USG reported thyroid goiter and a micro nodular pattern where the diagnosis of Hashimoto's thyroiditis is made. This study demonstrated that, through understanding the pathological history alongside the current disease, we can diagnose a polyglandular autoimmune syndrome type III-C.

Autoimmune Polyglandular Syndrome type 2

SUMMARY Autoimmune polyglandular syndrome type 2 (APS 2) is defined by the presence of Addison's disease (AD) associated with autoimmune thyroid disease and/or Type 1 diabetes mellitus (T1DM). It is a rare disease, affecting about 1.4-2 cases/100,000 inhabitants. Its less frequent clinical presentation is the combination of AD, Graves' disease, and T1DM. We present the case of a 42-year-old woman with a history of total thyroidectomy due to Graves' disease, type 2 diabetes mellitus, and hypertension, who sought the ED due to asthenia, dizziness, nausea, and vomiting. She reported having stopped antihypertensive therapy due to hypotension and presented a glycemic record with frequent hypoglycemia. On physical examination, she had cutaneous hyperpigmentation. She had no leukocytosis, anemia, hypoglycemia, hyponatremia or hyperkalemia, and a negative PCR. Serum cortisol <0.5 ug/dl (4,3-22,4), urine free cortisol 9 ug/24h (28-214), ACTH 1384 pg/mL (4,7-48,8), aldosterone and renin in erect position of 0 pg/ml (41-323) and 430.7 uUI/ml (4.4-46.1) respectively. Quantiferon TB was negative; computerized axial tomography of the adrenals showed no infiltrations, hemorrhage, or masses. The 21-hydroxylase antibody assay was positive. B12 vitamin was normal, anti-GAD antibodies were positive, anti-insulin, anti-IA2, and anti-transglutaminase antibodies were all negative. The patient started insulin therapy and treatment for AD with prednisolone and fludrocortisone with good clinical response. This case aims to alert to the need for high clinical suspicion in the diagnosis of AD. Since this is a rare autoimmune disease, it is important to screen for other autoimmune diseases in order to exclude APS.

RESUMO A síndrome poliglandular autoimune tipo 2 (SPGA2) é definida pela presença de doença de Addison (DA) associada à doença tiroideia autoimune e/ou diabetes mellitus tipo 1 (DMT1). Trata-se de uma doença rara, afetando cerca de 1,4-2 casos/100.000 habitantes. A apresentação clínica menos frequente é a combinação de DA, doença de Graves e DMT1. Apresenta-se mulher de 42 anos, com antecedentes de tiroidectomia total por doença de Graves, diabetes mellitus tipo 2 e hipertensão, que recorre ao SU por quadro arrastado de astenia, emagrecimento, tonturas, náuseas e vômitos. Referia ter suspendido terapêutica anti-hipertensora por hipotensão e apresentava registro glicêmico com hipoglicemias frequentes. Ao exame físico, salientava hiperpigmentação cutânea. Analiticamente sem leucocitose, anemia, hipoglicemia, hiponatremia ou hipercaliemia, PCR negativa. Cortisol sérico matinal <0,5 ug/dl (4,3-22,4), cortisol livre na urina 9 ug/24h (28-214), ACTH 1.384 pg/mL (4,7-48,8), aldosterona e renina em posição ereta de 0 pg/mL (41-323) e 430,7 uUI/mL (4,4-46,1), respectivamente. Realizado estudo complementar para averiguar causa de insuficiência suprarrenal primária. Quantiferon TB negativo, tomografia axial computadorizada das suprarrenais sem infiltrações, hemorragia ou massas. Anticorpos anti-21-hidroxilase positivos. Foi aprofundada a investigação com vitamina B12 normal, anti-GAD positivo, anti-insulina, anti-IA2, antitransglutaminase, negativos. Nesse contexto, a doente iniciou insulinoterapia e tratamento dirigido para a DA com prednisolona e fludrocortisona, com boa resposta clínica. Este caso tem como objetivo alertar para a necessidade de elevada suspeição clínica no diagnóstico de DA. Sendo esta uma doença autoimune rara, é importante rastrear outras doenças autoimunes no sentido de excluir SPGA.

Hipofisitis linfoplasmocitaria y fibrosis retroperitoneal asociadas a un síndrome poliglandular autoinmune: enfermedades relacionadas con IgG4. Caso clínico / Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease: report of one case

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Pathology confirmed the presence of a lymphoplasmacytic hypophysitis. She needed a second surgical resection due to mass growth and neuro-ophthalmologic impairment. One year later, systemic lupus erythematosus, arterial hypertension and type 2 diabetes mellitus were diagnosed. Two years later, due to back pain, constipation and renal failure, retroperitoneal fibrosis was found, satisfactorily treated with glucocorticoids and colchicine. Hence, this clinical vignette shows the coexistence of autoimmune polyglandular syndrome with retroperitoneal fibrosis and lymphoplasmacytic hypophysitis. Tissue analysis showed the presence of IgG4 producing plasma cells in the pituitary and retroperitoneum, which constitute a basis for the diagnosis of IgG4 related disease.

Primary amenorrhea associated with hyperprolactinemia in polyglandular autoimmune syndrome type II: A case report / Amenorreia primária associada com hiperprolactinemia em síndrome poliglandular autoimune tipo 2: relato de caso

Abstract 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.

Resumo A síndrome poliglandular autoimune tipo 2 (SPGA-2) é uma síndrome de imunoendocrinopatia rara caracterizada por doença de Addison autoimune associada à diabetes mellitus tipo 1 e/ou doenças tireoidianas autoimunes. Relatamos aqui o caso de uma paciente de 23 anos de idade com SPGA-2 que foi acompanhada nos ambulatórios de dermatologia e endocrinologia da Universidade Federal do Triângulo Mineiro, localizada no estado de Minas Gerais, Brasil. Primeiramente, a paciente apresentou hiperpigmentação cutânea difusa e vitiligo; posteriormente, por apresentar vômitos, hiporexia, perda ponderal, hipoglicemia, amenorreia e galactorreia, foi diagnosticada com SPGA-2. A paciente apresentou também intensa hiperprolactinemia secundária apenas ao hipotireoidismo primário. É comum o diagnóstico tardio da SPGA-2, pois a doença é rara e apresenta manifestações clínicas inespecíficas. Este relato de caso enfatiza a importância do diagnóstico e tratamento precoces como objetivo de reduzir a morbimortalidade associada a essas doenças, especialmente à doença de Addison. O presente estudo descreve um caso raro de uma paciente com SPGA-2 com amenorreia primária associada a hiperprolactinemia.

Approach to the patient with POEMS syndrome first manifested as Addison's disease / 中华内分泌代谢杂志

A middle aged male presented with darkened skin and edema of lower extremities was reported. He was diagnosed as primary adrenocortical insufficiency ( Addison' s disease ) accompanied with hypergonadotropic hypogonadism, hypoparathyroidism, and subclinical hypothyroidism after endocrinological workup. In addition, the patient also had thickened skin, hirsutism, and polyserositis. The diagnosis of POEMS syndrome was confirmed by elevated M protein and VEGF level. The image of CT showed normal adrenals. Besides the autoimmune polyglandular syndrome ( APS), the possibility of POEMS syndrome in an adult patient with multiple endocrine dysfunction should be considered.

Síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX): a importância da história familiar para o diagnóstico precoce / Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: the importance of family history for early diagnosis

A síndrome de desregulação imune, poliendocrinopatia e enteropatia ligada ao X (IPEX) é uma síndrome de imunodeficiência primária rara, de herança recessiva, que afeta lactentes do sexo masculino. A doença cursa com enteropatia perdedora de proteínas, dermatite eczematosa e poliendocrinopatias, podendo ser fatal naqueles sem tratamento apropriado. O objetivo deste relato é descrever um caso de IPEX, enfatizando a importância da história familiar para o diagnóstico precoce. O caso descreve um lactente com tipo grave da síndrome, com apresentação clínica precoce e história familiar característica, com episódios de morte prematura em doze homens pertencentes à linhagem materna. O diagnóstico por mapeamento genético demostrando mutação no gene FOXP3 foi obtido após o óbito do paciente, decorrente de choque séptico. O transplante de células-tronco hematopoiéticas é o melhor tratamento disponível, e na sua ausência, a síndrome IPEX pode ser fatal nos primeiros dois anos de vida. Assim, assegurar um diagnóstico precoce é fundamental.

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare recessive primary immunodeficiency syndrome that affects male infants. The disease course is characterized by protein-losing enteropathy, eczematous dermatitis, and polyendocrinopathies, and may be fatal if not appropriately treated. The aim of this report was to describe a case of IPEX, emphasizing the importance of family history for early diagnosis. The case describes an infant with a severe manifestation of the syndrome, with early clinical presentation and characteristic family history, with episodes of premature death affecting 12 men belonging to the mother's lineage. Diagnosis was established by genetic mapping after the patient's death due to septic shock; a mutation in the FOXP3 gene was found. Hematopoietic stem cell transplantation is the best treatment available; in its absence, the IPEX syndrome can be fatal in the first 2 years of life. Therefore, ensuring early diagnosis is critical.

Chronic mucocutaneous candidiasis: a case with exuberant cutaneous horns in nipples

Chronic mucocutaneous candidiasis is a rare disorder characterized by persistent and recurrent infections by Candida due to changes in cellular immunity and may be associated with autoimmune endocrine disorders. It is refractory to the usual antifungal treatments, which merely control it with imidazole derivatives. This reports the case of a 50-year-old female patient who referred vaginal discharge associated with vulvar ulcerated lesions and whitish plaques on oral and genital mucous membranes of onset in adolescence besides cutaneous horns in nipples. The clinical picture, family history, culture and anatomopathological studies were consistent with chronic infection by candida. Treatment with systemic antifungals obtained partial response of lesions characterizing a clinical picture of Chronic Mucocutaneous Candidiasis.

Rastreio de síndrome poliglandular autoimune em uma população de pacientes com diabetes melito tipo 1 / Screening for autoimmune polyglandular syndrome in a cohort of patients with type 1 diabetes mellitus

OBJETIVO: Caracterizar uma população de pacientes com diabetes melito tipo 1 (DMT1) relativamente à presença de outras entidades autoimunes que permitam estabelecer o diagnóstico de síndrome poliglandular autoimune (SPGA). SUJEITOS E MÉTODOS: Incluímos 151 pacientes com DMT1. Analisamos os seguintes parâmetros clínicos: gênero, idade atual, duração da doença, antecedentes pessoais de patologia autoimune e antecedentes familiares de diabetes melito. Submetemos cada doente a um estudo laboratorial com o objetivo de detectar a presença de marcadores imunológicos para a tireoidite, insuficiência adrenocortical, gastrite e doença celíaca, e eventual disfunção associada. RESULTADOS: Coorte com 51,7% homens, idade média atual de 33,4 ± 13 anos e duração da doença de 14,4 ± 9,6 anos. Antecedentes pessoais de autoimunidade presentes em 2% da amostra e história familiar de diabetes melito em 31,1%. A frequência de marcadores imunológicos foi de 24% para a tireoidite, 9,4% para a insuficiência adrenocortical, 17,2% para a gastrite e 2% para a doença celíaca. Foi diagnosticada SPGA em 25,2% dos pacientes. O risco de SPGA e tireoidite autoimune foi superior em mulheres. A duração da doença correlacionou-se diretamente com a presença de autoanticorpos gástricos e inversamente com a positividade dos anticorpos anti-ilhota, antiglutamato descarboxilase e antitirosina fosfatase. Constatou-se a existência de uma associação entre os marcadores imunológicos da tireoidite e gastrite, bem como entre a doença celíaca e insuficiência adrenocortical. CONCLUSÃO: Atendendo à frequência e ao prognóstico inerente à SPGA, a necessidade de realizar rastreio em pacientes com DMT1 é enfatizada. O diagnóstico atempado de outras doenças autoimunes permitirá individualizar o tratamento e seguimento do doente.

OBJECTIVE: To characterize a cohort of patients with type 1 diabetes mellitus (T1DM) on the presence of other autoimmune disorders that could establish the diagnosis of autoimmune polyglandular syndrome (APS). SUBJECTS AND METHODS: We included 151 patients with T1DM. The following clinical parameters were analyzed: gender, current age, disease duration, previous history of autoimmune disorders, and familial history for diabetes mellitus. Each patient was analyzed to detect autoimmune markers of thyroiditis, adrenocortical insufficiency, gastritis, and celiac disease, as well as possible associated dysfunctions. RESULTS: A cohort with 51.7% males, average current age of 33.4 ± 13 years and disease duration of 14.4 ± 9.6 years was analyzed. Previous history of autoimmunity was found in 2%, and familial history for diabetes mellitus in 31.1% of the cohort. Frequency of autoimmune markers was 24% for thyroiditis, 9.4% for adrenocortical insufficiency, 17.2% for gastritis, and 2% for celiac disease. APS was diagnosed on 25.2% of the patients. APS and autoimmune thyroiditis risk was higher in females. Disease duration correlated directly with gastric autoantibodies, and inversely with positive islet cell, glutamic acid decarboxylase, and tyrosine phosphatase antibodies. We noticed a correlation between autoimmune markers for thyroiditis and gastritis, as well as between celiac disease and adrenocortical insufficiency. CONCLUSION: Considering APS prevalence and prognosis, the need for APS screening in patients with T1DM is emphasized. Early diagnosis of other autoimmune disorders will enable us to adjust each patient treatment and follow-up.

Síndrome poliglandular autoinmune asociado a vitiligo / Vitiligo-asociated autoimmune polyglandular syndrome

El síndrome poliglandular autoinmune es un desorden inmunológico que afecta diferentes glándulas endocrinas y que se asocia frecuentemente a enfermedades cutáneas de origen autoinmune como el vitiligo. Actualmente se clasifica en tres grupos de acuerdo a las glándulas comprometidas. El síndrome poliglandular autoinmune tipo IIIB es el más comúnmente reportado y se caracteriza por enfermedad tiroidea autoinmune con gastritis autoinmune. Aunque hay asociación con alopecia areata, es el vitiligo la enfermedad cutánea que más se asocia con este síndrome. Se presenta el caso de una paciente de 50 años con síndrome poliglandular autoinmune tipo IIIB, quien presentó inicialmente una tiroiditis autoinmune, posteriormente fue diagnosticada con anemia perniciosa secundaria a deficiencia de vitamina B12 y finalmente un vitiligo generalizado, resistente a múltiples tratamientos, a pesar del control de sus endocrinopatías.

Autoimmune poliglandular syndrome is an immune disorder, that affects different endocrine glands and that is frequently associated with cutaneous disorders of autoinmune etiology like vitiligo. It is currently classified in three groups depending on the compromised gland. Type IIIB autoimmune polyglandular syndrome is the most frequently reported and is characterized by autoimmune thyroid disease with autoimmune gastritis. Although, it is also associated wih alopecia areata, vitiligo is the most frequently cutaneous disease reported in this syndrome. We report a 50 year old woman with a type IIIB autoimmune poliglandular síndrome who had an autoimmune thyroid disease with hyperthyroidism 25 years before, later she was diagnosed with pernicious anemia secondary to vitamin B12 deficiency and finally presented a generalized vitiligo, resistant to multiple treatments des-pite good control of her autoimmune illnesses.

Síndrome poliglandular autoinmune tipo II: presentación de un caso / Polyglandular autoimmune syndrome type II: a case report

Fundamento: la afección poliglandular autoinmune constituye una rareza clínica; de todas las variantes, el síndrome poliglandular autoinmune tipo II (SPGA-II) es el más común, el cual está caracterizado fundamentalmente por la presencia de la enfermedad de Addison autoinmune combinada con tiroiditis autoinmune y diabetes mellitus tipo 1. Este síndrome ocurre fundamentalmente alrededor de la tercera y cuarta décadas de la vida, donde se reporta comúnmente en mujeres con relación a los hombres, con una proporción de 3-4:1. Objetivo: presentar un caso clínico de un síndrome de Schmidt-Carpenter. Caso clínico: paciente femenina de 35 años de edad que presenta a los 20 años diabetes mellitus tipo 1, seguida nueve años después de una tiroiditis de Hashimoto, y en los últimos cincos años amenorrea alternando con metrorragias y tres abortos espontáneos; en el ingreso hospitalario se constata alopecia y un complejo sintomático compatible con insuficiencia suprarrenal. Los estudios clínicos y analíticos comprobaron la presencia de un síndrome de Schmidt-Carpenter asociado a hipogonadismo y alopecia. Conclusiones: este síndrome es una rara enfermedad severa de múltiples glándulas endocrinas causada por trastornos inmunes con destrucción de los tejidos. El diagnóstico es clínico, comprobado por la determinación de los niveles hormonales y las pruebas de inmunidad. Se debe diferenciar de otros procesos inmunes, cromosómicos, hematológicos y digestivos que afectan diferentes glándulas y órganos. La terapéutica empleada fue eficaz. Esta enfermedad es importante para las especialidades clínicas, especialmente la medicina interna, la endocrinología, la inmunología y la genética.

Background: polyglandular autoimmune syndrome type II is a clinical rarity; among all variants this syndrome is the most common. It is mainly characterized by the presence of autoimmune Addison´s disease combined with autoimmune thyroiditis and type I diabetes mellitus. This syndrome appears around the third and fourth decades of life. It is more frequent in women than in men, in a ratio of 3-4:1. Objective: to present a clinical case of Schmidt-Carpenter syndrome. Clinical Case: a thirty-five-year-old female patient who presented type I diabetes mellitus at the age of 20 and nine years later a Hashimoto´s thyroiditis. In the last five years the patient presented amenorrhea alternated with metrorrhagia and had three miscarriages. After her hospital admission, it was established alopecia and a symptomatic complex compatible with adrenal insufficiency. Clinical and analytical studies confirmed the presence of Shmidt-Carpenter syndrome associated with hypogonadism and alopecia. Conclusions: this syndrome is a rare and severe disease that affects multiple endocrine glands caused by immune disorders with destruction of tissues. The diagnosis is clinical, confirmed by the establishment of hormonal levels and immunity tests. This syndrome should be differentiated from other immune, chromosomal, hematological, and digestive processes that affect other glands and organs. The therapeutics employed was effective. This disease is relevant to clinical specialties, particularly for internal medicine, endocrinology, immunology, and genetics.

Polyglandular Autoimmune Syndrome Type III with Primary Hypoparathyroidism

Polyglandular autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseases of the endocrine and nonendocrine system. After Schmidt introduced a case of nontuberculosis adrenal gland dysfunction with thyroiditis in 1926, Neufeld defined polyglandular autoimmune syndrome by I, II, and III subtypes in 1980 by their presentation of occurrence age, heredity methods, relationship with human leukocyte antigen, and accompanying diseases. We report a case of a 32-year-old female with polyglandular autoimmune syndrome III accompanied by type 1 diabetes mellitus that was treated with insulin (36 units per day) for 11 years. She had insulin deficiency and Hashimoto thyroiditis as an autoimmune disorder. In addition, she had several features similar to Albright's hereditary osteodystrophy including short stature, truncal obesity, round face, short neck, low intelligence (full IQ 84), and decreased memory. Although Albright's hereditary osteodystrophy is morphological evidence of pseudohypoparathyroidism or pseudopseudohypoparathyroidism, she had primary hypoparathyroidism on laboratory results. Here, we report a case of polyglandular autoimmune syndrome III with type 1 diabetes mellitus, autoimmune thyroiditis, and primary hypoparathyroidism, accompanied by clinical features similar to Albright's hereditary osteodystrophy.

Correlative Analysis on Human Leukocyte Antigen-DQ Gene Susceptibility for Autoimmune Polyglandular Syndrome,Type 1 Diabetic Mellitus and Autoimmune Thyroid Disease / 实用儿科临床杂志

Objective To evaluate the associations of human leukocyte antigen(HLA)-DQ gene with autoimmune polyglandular syndrome(APS),type 1 diabetic mellitus(T1DM) and autoimmune thyroid disease(AITD).Methods Fifteen cases of APS,29 cases of T1DM and 40 cases of AITD were selected as research subjects,while 27 healthy children were selected as controls.The DQA1 and DQB1 alleles were determined by polymerase chain reaction(PCR) and sequence-based typing method.The difference of their frequency in children and adolescents was analyzed.Results Compared with controls,APS and T1DM patients had increased frequency of subjects with DQA1*0301,0501(all P

Síndrome de schmidt tipo II / Schmidt, type II syndrome

Se presenta el caso de una paciente de 48 años de edad con el diagnóstico de síndrome de Schmidt tipo II, enfermedad poco frecuente dada por la asociación de hipoadrenalismo e hipotiroidismo y que en el decusar del tiempo presentó una diabetes mellitus. Se destaca la importancia del laboratorio y la terapéutica de esta entidad, la cual se da como ejemplo de síndrome de hipofunción endocrina multiglandular.

A 49 years old patient with the diagnosis of Scmidt's syndrome, type II was studied. It is a non frequent disease caused by the association of hypoadrenalism and hypothyroidism. With the passing of time he presented simultaneously a diabetes mellitus. The importance of laboratory reports and therapeuctics of this entity, wich is an example of the multiglandular endocrine hypofunction syndrome was stressed.