endocrine and metabolic disorders
Polyglandular Deficiency Syndromes
Classification of Polyglandular Deficiency Syndromes
Three patterns of autoimmune failure have been described in polyglandular deficiency syndrome (see table Characteristics of Polyglandular Deficiency Syndromes ), which likely reflect different autoimmune abnormalities. Some experts combine type 2 and type 3 into a single group. The prevalence of type 2 is about 1 per 1000 whereas type 1 occurs in about 1 per 100,000 ( Type 1 polyglandular deficiency, also known as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), usually begins in childhood. It is caused by mutations in theAIREgene and is inherited in an autosomal recessive pattern. It is defined by the presence of ≥ 2 of the following: Chronic Mucocutaneous Candidiasis None Hypoparathyroidism None Adrenal insufficiency ( Addison Disease ) 15 years. Accompanying endocrine and nonendocrine disorders (see table Characteristics of Polyglandular Deficiency Syndromes ) continue to appear at least until patients are about age 40. Type 2 polyglandular deficiency, also known as Schmidt syndrome, usually occurs in adults; peak incidence is age 30 years. It occurs 3 times more often in women. It is associated with certain human leukocyte antigen (HLA) genotypes and exhibits polygenic inheritance. It typically manifests with the following: Addison Disease None Hypothyroidism or Diabetes Mellitus (DM) (autoimmune etiology) More rare features may also be present (see table Characteristics of Polyglandular Deficiency Syndromes ). Type 3 is glandular failure that usually occurs in adults, particularly middle-aged women. It also is associated with certain HLA genotypes and exhibits polygenic inheritance. It is characterized by Hypothyroidism None At least one of a variety of other disorders (see table Characteristics of Polyglandular Deficiency Syndromes ) Type 3 does not involve the adrenal cortex. 1.Husebye ES, Anderson MS, Kampe O: Autoimmune polyendocrine syndromes.N Engl J Med378:1132–1141, 2018. doi: 10.1056/NEJMra1713301 