Presentamos 2 casos de SPA-1 estudiados en nuestro centro. Autoimmune polyglandular syndrome type 1 APS-1 is an autosomal recessive disorder characterized by chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and primary adrenal insufficiency. We report two patients with APS-1 referred to our hospital for evaluation. The first patient was an year-old girl with hypoparathyroidism, infectious or immunological malabsorption, and autoimmune hepatitis. Hypoparathyroidism associated with other processes with a probable autoimmune origin suggested APS
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The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The patient had a history of secondary amenorrhea, Addison disease, hypothyroidism, osteoporosis and diabetes mellitus type 2.
Physical exam showed hyperpigmentation, hypotension and bradycardia. Lab exams demonstrated leukocytosis, hyponatremia, hyperglycemia, and compensated metabolic alkalosis. The emergency management consisted on rehydration, corticoids and insulin. During the hospital stance, exams included follicle stimulation hormone increasement and vaginal echography determined uterine hypoplasia.
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Similar articles Schmidt'S syndrome and severe hyponatremia: report of an unusual case and review of the related literature. Gumieniak MD O, et al. Endocr Pract. PMID: Review. Unusual presentation of Addison's disease in Schmidt's syndrome.
Gaiero A, et al. J Pediatr Endocrinol Metab. PMID: Schmidt's syndrome associated with sarcoidosis. Watson JP, et al. Postgrad Med J. Schmidt's syndrome presenting as a generalised anxiety disorder: a case report. Anyfantakis D, et al. J Med Life. Epub Dec Severe hyponatremia and Schmidt's syndrome. Wehbe E, Grant ME. Wehbe E, et al. Clin Exp Nephrol. Epub Feb Show more similar articles See all similar articles.
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[Schmidt’s Syndrome: A Difficult Diagnosis in the Latin American Context]
The diagnosis consists in the concomitant presentation of Addison disease, autoimmune thyroid disease and other autoimmune endocrinological conditions. The patient had a history of secondary amenorrhea, Addison disease, hypothyroidism, osteoporosis and diabetes mellitus type 2. Physical exam showed hyperpigmentation, hypotension and bradycardia. Lab exams demonstrated leukocytosis, hyponatremia, hyperglycemia, and compensated metabolic alkalosis.
Sindrome poliglandular autoinmune asociado a vitiligo
Autoimmune polyendocrine syndromes APSs , also called polyglandular autoimmune syndromes PGASs  or polyendocrine autoimmune syndromes PASs , are a heterogeneous group  of rare diseases characterized by autoimmune activity against more than one endocrine organ , although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity. Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an x-linked recessive process. For this condition, differential diagnosis sees that the following should be considered: . Immunosuppressive therapy may be used in type I of this condition. The component diseases are managed as usual; the challenge is to detect the possibility of any of the syndromes and to anticipate other manifestations.
Autoimmune polyendocrine syndrome