Sindrome poliglandular autoinmune tipo iii-c asociado con vitiligo; reporte de caso en honduras / Polyglandular autoimmune syndrome type iii-c associated with vitiligo; case report in 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.

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.

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