Síndromes poliglandulares autoimunes: uma revisão geral em busca novas evidências / Autoimmune polyglandular syndromes: a general review in search of new evidence / Síndromes poliglandulares autoinmunes: una visión general de la búsqueda de nuevas evidencias

As Síndromes Poliglandulares Autoimunes (SPA) são consideradas endocrinopatias raras em que ocorrem alterações autoimunes nas glândulas endócrinas, acompanhadas de outras doenças não endócrinas. Tendo em vista a complexidade de associações em cada subtipo, suas particularidades e gênese dos mecanismos envolvidos, este artigo busca, através de uma meta-analise, equacionar seus aspectos descritivos mais atuais e importantes para a prática clínica. As SPA podem ser classificadas nos tipos I, II, III e IV de acordo com a idade de início e os órgãos afetados. Interações complexas entre fatores genéticos, epigenéticos e ambientais provavelmente contribuem para o desenvolvimento dessas síndromes, que idealmente devem ser diagnosticadas em estágios iniciais, dada a sua alta morbidade e mortalidade. O tratamento adequado de cada uma das alterações é essencial para preservar a qualidade de vida dos pacientes.

Autoimmune Polyglandular Syndromes (APS) are considered rare endocrinopathies characterized by autoimmune alterations in the endocrine glands, accompanied by other non-endocrine diseases. Bearing in mind the complexity of associations in each subtype, its particularities and the genesis of the mechanisms involved, this article seeks, through meta-analysis, to equate its most current and important descriptive aspects for clinical practice. APS can be classified into types I, II, III and IV according to age of onset and affected organs. Complex interactions between genetic, epigenetic, and environmental factors likely contribute to the development of these syndromes, which ideally should be diagnosed at an early stage, given their high morbidity and mortality. Appropriate treatment of each of the alterations is essential to preserve the quality of life of patients.

Los Síndromes Polilandulares Autoinmunes (SPA) se consideran endocrinopatías raras en las que se producen cambios autoinmunes en las glándulas endocrinas, acompañadas de otras enfermedades no endocrinas. En vista de la complejidad de las asociaciones en cada subtipo, sus particularidades y la génesis de los mecanismos involucrados, este artículo busca, a través de un metaanálisis, considerar sus aspectos descriptivos más actualizados e importantes para la práctica clínica. Las ZEPA podrán clasificarse en los tipos I, II, III y IV según la edad de inicio y los órganos afectados. Las complejas interacciones entre los factores genéticos, epigenéticos y ambientales probablemente contribuyan al desarrollo de estos síndromes, que idealmente deberían ser diagnosticados en etapas tempranas, dada su alta morbilidad y mortalidad. El tratamiento adecuado de cada cambio es esencial para preservar la calidad de vida de los pacientes.

Síndrome poliglandular autoinmunitario tipo II (síndrome de Schmidt): enfermedad de Addison y tiroiditis de Hashimoto asociado con vitíligo / Polyglandular autoimmune syndrome type II (Schmidt syndrome): Addison's disease and Hashimoto's thyroiditis associated to vitiligo

Resumen Los síndromes poliglandulares autoinmunitarios son afecciones poco frecuentes que se distinguen por la coexistencia de al menos dos enfermedades glandulares autoinmunitarias. Se clasifican en tipo I (o juvenil) y tipos II y III (o del adulto). El tipo II o síndrome de Schmidt se caracteriza por enfermedad de Addison, enfermedad tiroidea autoinmunitaria o diabetes mellitus tipo 1 que pueden vincularse con otras alteraciones de naturaleza autoinmunitaria, como vitíli go, hepatitis autoinmunitaria, miastenia gravis, anemia perniciosa, enfermedad celiaca y alopecia areata, entre otras. Se comunica el caso de una paciente de 61 años de edad con vitíligo a quien se le diagnosticó enfermedad de Addison y tiroiditis de Hashimoto (síndrome de Schmidt).

Abstract Autoimmune polyglandular syndromes are rare conditions characterized by the coexistence of at least two autoimmune glandular diseases. They can be classified in type I (or juvenile) and type II and III (or adult). Type 2 or Schmidt's syndrome is characterized by Addison's disease, autoimmune thyroid disease and/or type 1 diabetes mellitus and may be associated with other disorders of autoimmune nature, such as vitiligo, autoimmune hepatitis, myasthenia gravis, pernicious anemia, celiac disease or alopecia areata, among others. We communicate the case of a 61 year-old woman with vitiligo diagnosed with Addison's disease and Hashimoto's thyroiditis (Schmidt's syndrome).

Polyglandular Autoimmune Syndrome Type 2 Complicated by Multiple Organ Failure, Empty Sella Syndrome and Aplastic Anemia

Polyglandular autoimmune syndrome (PAS) is a group of syndromes comprised of glandular and extra-glandular disorders characterized by autoimmunity. A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. The patient was assessed to have acute congestive heart failure with cardiomyopathy, chronic renal failure with hyporeninemic hypoaldosteronism, and pancytopenia in addition to primary hypothyroidism and adrenal insufficiency. With the diagnosis of PAS type 2 complicated by multiple organ failure (MOF), medium-dose prednisolone (30 mg/d) was introduced primarily to control the activity of autoimmunity, which triggered MOF over the adrenal insufficiency. Levothyroxine (25 microg/d) was followed for replacement of the thyroid hormone deficiency. However, the symptoms and signs fluctuated, depending on the dosage of prednisolone, and progressively worsened by empty sella syndrome and aplastic anemia. Here, we report on a case of PAS type 2 with MOF and atypical complications, and suggest that recognition, assessment, and control of PAS as a systemic autoimmune disease may be essential.

Common variable immunodeficiency and Type 1 Diabetes Mellitus in a 19-year-old Filipino male with Alopecia Universalis / Journal of the ASEAN Federation of Endocrine Societies

@#A 19-year-old Filipino male presents with recurrent respiratory tract symptoms every 4 to 5 months since childhood and sudden onset of diabetes type 1 with ketoacidosis. He had patchy hair loss which started at 7 years old, and was diagnosed with alopecia universalis. Thyroid antibodies and 21-hydroxylase antibody were normal. Common Variable Immunodeficiency with Polyglandular Autoimmune Syndrome IV was considered. The patient is on monthly intravenousimmunoglobulin therapy and basal bolus insulin regimen.

A Case of Idiopathic Hypoparathyroidism Associated with Graves' Disease

Graves' disease is a relatively rare endocrinologic disorder in childhood age and often associated with other endocrinologic disorders such as type I diabetes mellitus and Addison's disease etc. Also, it is associtated with non-endocrinologic autoimmune diseases such as systemic lupus erythematosus, myasthenia gravis, idiopathic thrombocytopenic purpura, vitiligo and pernicious anemia. However, idiopathic hypoparathyroidism associated with Graves' disease is very rare. Few cases were reported worldwide, but not in Korea. Up to the present, it is well known that some endocrinologic diseases such as Addison's disease, primary hypothyroidism, idiopathic hypoparathyroidism, type I diabetes mellitus and primary gonadal failure occur singlely or more at the same time and this disease entity is called polyglandular autoimmune(PGA) syndrome. We experienced a 14-year-old female child with tingling sensation on extremities and generalized tonic seizure, who had a had history of Graves' disease. We diagnosed her as idiopathic hypoparathyroidism by Brake's criteria. Then, propylthiouracil and vitamin D3 were given and the symptoms and signs subsided. As far as we know, this is the first case of idiopathic hypoparathyroidism with Graves' disease in Korea. So, we report a case of idiopathic hypoparathyroidism associated with Graves' disease with a brief review of related literatures.

A Case of Polygrandular Automune type II syndrome associated empty sella / 대한내분비학회지

The polyglandular autoimmune(PGA) syndrome designate as the dysfimction of endocrine and nonendocrine systems involving two or more organs on the basis of an autoimmune mechanism. There are 3 types of PGA syndrome and their etiology or pathogenesis is still not complete by understood. Type I PGA is present in the patients who have at least two of the triad of Addison's disease, hypopacathyroidism, and chronic mucocutaneous candidiasis. Type II PGA is present in the those who have Addisons disease with autoimmune thyroid disease and/or insulin dependent diabetes mellitus, but who do not have hypoparathyroidism or candidiasis. Type III PGA is present in the one who have autoimmune thyroid disease, without Addisons disease, but with another autoimmune disease report a case of autoimmune polyglandular syndrome type II in a seventy-three years old female patient who had primary adrenal insufficiency, primary hypothyroidism, and empty sella, pulmonary tuberculosis.

A Case of Polyglandular Autoimmune Syndrome / 대한내분비학회지

The polyglandular autoimmune syndrome is constellation of multiple endocrine insufficiencies often associated with diseases of nonendocrine organs occurring in individual patients and their families. In 1980, Neufeld classified this syndrome into three major types. Type II is characterized by adrenocortical insufficiency, autoimmune thyroiditis, and insulin-dependent diabetes mellitus. We experienced a case characterized by adrenocortical insufficiency, autoimmune thyroiditis, and ovarian failure and report with the review of the literature. A 38-year-old woman visited our clinic because of progressing brown colored pigmentation of skin and mucosa which is developed a year ago. Nine years ago prior to visit, amenorrhea was developed after right oophrectomy. Three years ago, she revealed feature of hyperthyroidism such as palpitation, loss of body weight (8kg/1-2years), heat intolerance, and sweating, so received antithyroid therapy for 14 months. Brown colored pigmentation of skin and mucosa, especially scar and gingiva, has been progressively aggravated during last year. She had no past or family history of other endocrine disease. Diffuse pigmentation of skin, loss of axillary and pubic hair, and diffuse enlargement of both thyroid glands were shown on physical examination. Blood cell count, serum chemistry and blood sugar test were all within normal range. Basal hormone levels were T3-uptake 29.7% (30~40), T3 153 ng/dL (85~185), T4 7.5ug/dL (5.5~11.5), TSH 2.4 IU (0.34~3.5), anti-TG antibody <100 U/mL (0~100), anti-microsome antibody <50 U/mL (0~100), TBII (thyrotropin binding inhibiting immunoglobulin) 2.2% ( (-15)~15), ACTH 989 pg/mL (0~37), cortisol 0.1 ug/dL (5~25), renin 7.1ng/mL/hr (1~2.5), aldosterone 81.0pg/mL (50~194), LH 115.2 mIU/mL (0.6~16.8), FSH 122 mIU/mL (1.6~19.0), and estradiol <10.0pg/mL (30~120). In ACTH stimulation test, levels of basal cortisol, 30 minutes, and 60 minutes were <0.1, <0.1, and <0.1 g/dL respectively. And, in glucagon stimulation test, levels of basal C-peptide, 5 minutes, 10 minutes, and 15 minutes were 0.9, 5,1, 6.3, and 5.5 ng/dL respectively. Thyroid scan showed diffuse enlargement of bilateral thyroid glands and pelvic ultrasonogram showed atrophy of left ovary. We administered corticosteroid, estrogen, and progesterone which were deficient to the patient, and has followed up the clinical course of the patient.

A Korean Pedigree of Paget Bone Disease: Including a Case of Panostotic Paget Bone Disease complicated with Giant Cell Reparative Granuloma / 대한내분비학회지

The polyglandular autoimmune syndrome designates the dysfunction of endocrine and nonendocrine system involving two or more organs on the basis of an autoimmune mechanism. The autoimmune nature of these diseases has been based on the presence of lymphocytic infiltration in the affected gland, organ specific autoantibodies in the serum, cellular immune defects and an association with the HLA DR/DQ genes or immune response genes. This syndrome is usually classified into three classes and their etiology or pathogenesis is still not completely understood. A 28-year-old woman developed vitiligo and insulin dependent diabetes mellitus during the treatment of Graves' disease with antithyroid drug. She had a tendency of spontaneous ketonemia and serum c-peptide levels were low(0.21, 0.16ng/mL: fasting and glucagon stimulated). Thyrotrophin binding inhibitor immunoglobulin and pancreas iIslet cell cytoplasmic antibody were positive. We report here a case of polyglandular autoimmune syndrome, type III manifesting Graves' disease, vitiligo, and insulin dependent diabetes mellitus.