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.

Endocrinopatía múltiple autoinmune autoinmune / Autoimmune polyendocrinopathy

Los autoanticuerpos son proteínas producidas en el organismo por la inducción de un antígeno propio del individuo el cual no reconocen y rechazan. Su aparición en sangre puede iniciarse tiempo antes de la presentación de síntomas o signos. El deterioro funcional de dos o más glándulas es una afectación endocrinológica múltiple que puede asociarse con otras patologías autoinmunes no endocrinas, tales como vitiligo, alopecia areata, gastritis autoinmune y anemia perniciosa. Se clasifica en tres síndromes poliendocrinos autoinmunes (SPA). En Europa la incidencia del tipo I es menor a 1:100000 por año y los 2 y 3 varían entre 1­2:100000 por año. Colombia no cuenta con registros que permitan calcularla. Se reporta el caso de un hombre de 18 años diagnosticado con hipotiroidismo autoinmune, a los 15 años de edad debutó con cetoacidosis diabética y a los 17 con posterior aparición de vitiligo. El manejo inicial se realizó con levotiroxina sódica y análogos de insulina. Este caso corresponde a un SPA tipo IIIA, ya que cursa con hipotiroidismo autoinmune, diabetes mellitus y como último hallazgo cronológico la asociación con vitiligo. La detección de una endocrinopatía autoinmune en pacientes jóvenes debe alertar sobre la posible existencia de un SPA

Autoantibodies are blood proteins produced in response to and counteracting a specific antigen. Autoantibodies may be present before signs and symptoms occur. A polyendocrinopathy is characterized by the coexistence of at least two endocrine glands insufficiency and may be associated with another non-endocrine autoimmune illness including vitiligo, alopecia areata, autoimmune gastritis and pernicious anemia. It is classified into three types of autoimmune polyglandular syndromes (APS). In Europe the incidence of APS-1 is less than one new case per 100000 persons per year and the incidence of the other two APS types vary between1 to 2 new cases per 100000 persons per year. APS incidence in Colombia cannot be estimated due to lack of records on this subject. We report the case of an 18-year-old male with autoimmune hypothyroidism diagnosed at 15 years of age, with onset of diabetic ketoacidosis at 17 followed by vitiligo. Therapy with levothyroxine 100 mcg daily and insulin glargine 10 units daily did not yield successful correction of APS in the patient. This patient was affected by APS- IIIA, characterized by the association of autoimmune hypothyroidism, diabetes mellitus and vitiligo, as the last manifestation. Detecting an autoimmune polyendocrinopathy in young patients should raise the suspicion of APS.

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.

Candidiasis mucocutánea crónica: una mirada al entendimiento genético / Chronic mucocutaneous candidiasis: a look at genetic understanding

RESUMEN La candidiasis mucocutánea crónica se caracteriza por infecciones recurrentes o persistentes en la piel, las uñas y las mucosas, producida por especies de Candida sp. Esta va a ser secundaria a cualquier alteración en la inmunidad antimicótica, en la cual no solo la producción de IL-17, sino cualquier defecto en la diferenciación de los linfocitos T hacia su perfil TH17, juegan un papel fundamental y van a desencadenar una susceptibilidad a esta infección, que dependiendo de la etiología genética, puede ser una manifestación sindrómica con otras características clínicas y endocrinológicas asociadas. Aquí revisamos de manera práctica, clara y concisa los defectos genéticos hasta ahora encontrados, implicados en la aparición de la candidiasis mucocutánea crónica.

SUMMARY Chronic mucocutaneous candidiasis is an infectious phenotype characterized by recurrent or persistent infections in the skin, nails and mucous membranes produced by Candida sp. This is secondary to any alteration in the antifungal immunity, in which not only the production of IL-17, but any defect in the differentiation of the T lymphocytes towards their TH17 profile, play a fundamental role and will unchain a susceptibility to this infection; that depending on the genetic etiology, can be a syndromic manifestation with other associated infectious and endocrinological clinical characteristics. Here, we review in a practical, clear and concise manner, the genetic defects so far found to be involved in the appearance of chronic mucocutaneous candidiasis.

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.

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.

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.

Procedimiento anestésico de urgencia del síndrome poliglandular autoinmune tipo II: presentación de un caso / Anesthetic procedure of urgency of type II polyglandular autoimmune syndrome: a case presentation

Los síndromes poliglandulares son la asociación de dos o más enfermedades del sistema endocrino asociadas a otras dolencias de causa autoinmune. Generalmente se trata de hipofunciones glandulares, excepto en el caso del tiroides, en el que puede aparecer tanto como hipo o hiperfunción. Objetivo: describir la técnica anestésica de urgencia del síndrome poliglandular autoinmune tipo II. Caso clínico: se reporta un caso, sobre el procedimiento anestésico del síndrome poliglandular autoinmune tipo II o Schmidt, en una paciente que se anunció para tratamiento quirúrgico de urgencia con el diagnóstico de colecistitis aguda, en el Hospital Universitario Manuel Ascunce Domenech.

Polyglandular syndromes are the association of two or more diseases of the endocrine system associate to other ailments of autoimmune cause. Generally, it is about glandular hypofunctions, except for thyroids, which may appear as much hypo as hyperfunction. Objective: to describe the anesthetic technique of urgency of type II polyglandular autoimmune syndrome. Clinical Case: a case is informed, on the anesthetic procedure of type II polyglandular autoimmune syndrome or Schmidt´s, in a patient announced for surgical treatment of urgency with acute cholecystitis diagnosis, at the University Hospital Manuel Ascunce Domenech.

Diabetes melito tipo 1 no contexto das poliendocrinopatias auto-imunes: [revisão] / Type 1 diabetes and autoimmune polyendocrine syndromes: [review]

Três entidades clínicas distintas, causadas por desarranjos genéticos, estão associadas a múltiplas desordens auto-imunes: síndrome linfoproliferativa auto-imune, poliendocrinopatias auto-imunes (APSs) e desregulação imune, poliendocrinopatia, enteropatia ligada ao X (IPEX). O diabetes melito auto-imune ou tipo 1 (DM1) pode estar presente nas APSs e na IPEX. A APS-1 caracteriza-se pela associação de candidíase crônica, hipoparatireoidismo e insuficiência adrenal auto-imune ou idiopática (doença de Addison), no entanto, o diabetes melito tipo 1 pode estar presente em até 12 por cento dos casos. A APS-2 inclui a doença de Addison (sempre presente), a doença tireoidiana auto-imune e o diabetes melito tipo 1, enquanto na APS-3 a doença tireoidiana se associa a outra doença imunológica, excluindo a insuficiência adrenal e o hipoparatireoidismo, e a APS-4 é composta por combinações diferentes das descritas anteriormente. Já a IPEX caracteriza-se por alteração rara da regulação auto-imune que resulta doenças auto-imunes de início precoce, envolvendo pâncreas, tireóide, intestino com diarréia secretora grave, eczema e anemia. O diagnóstico e o tratamento das doenças componentes das poliendocrinopatias e da IPEX são semelhantes ao da patologia na forma isolada.

Type 1 diabetes (T1D) is associated with autoimmune thyroid disease (AIT), celiac disease (CD), Addison's disease (AD), and other autoimmune diseases. These diseases can occur simultaneously in defined syndromes with distinct pathophysiology and characteristics: autoimmune polyendocrine syndromes (APSs) and the immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX). APSs were initially defined as a multiple endocrine gland insufficiency associated to an autoimmune disease in a patient. APS-1 is characterized by the evidence of chronic candidiasis, chronic hypoparathyroidism, AD and T1D could be present as part of this syndrome. The combination of autoimmune adrenal insufficiency with AIT and/or type 1 autoimmune diabetes mellitus defines APS-2. AIT associated to other autoimmune diseases (excluding AD and/or hypoparathyroidism) are the main characteristics of APS-3. Different clinical combinations of autoimmune diseases which were not included in the previous groups are the characteristics of APS-4. IPEX is a recessive disorder characterized by the neonatal onset of T1D, infections, enteropathy, thrombocytopenia and anemia, as well as endocrinopathy, eczema and cachexia. These disorders are not common, but their consequences can be life threatening when the diagnosis is overlooked, and the treatment is the same prescribed for isolated disease presentation.

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.