Characteristics of Polyglandular Deficiency Syndromes
Characteristic | Type 1 | Type 2 | Type 3 |
|---|---|---|---|
Demographics | |||
Age at onset | Childhood (3–5 years) | Adulthood (peak 30 years) | Adulthood (particularly middle-aged women) |
Female:male | 4:3 | 3:1 | Data not available |
Genetics | |||
Human leukocyte antigen (HLA) types | May influence the development of specific components of the disorder | Primarily, B8, DW3, DR3, DR4 Others in specific disorders | DR3, DR4 |
Inheritance | Autosomal recessive mutation of the AIRE gene | Polygenic | Polygenic |
Glands affected | |||
Common | Parathyroids Adrenals Gonads | Adrenals Thyroid Pancreas | Thyroid Pancreas |
Less common | Pancreas Thyroid | Gonads | Variable |
Clinical | |||
Adrenal insufficiency (Addison disease) | 73–100% | 100% | Not present |
26–32% | Not present | * | |
Rare | * | * | |
Chronic active hepatitis | 20% | Not present | Data not available |
73–97% | Not present | Data not available | |
Diabetes mellitus (type 1) | 2–30% | 52% | * |
Gonadal failure | In men, 15–25% In women, 60% | 3.5% | * |
76–99% | Not present | Not present | |
22–24% | Not present | Data not available | |
Not present | * | * | |
13–30% | < 1% | * | |
Not present | Not present | * | |
Thyroid disorders† | 10–11% | 69% | 100% |
4–30% | 5–50% | N/A | |
* Associated; incidence uncertain. | |||
† Usually chronic lymphocytic thyroiditis but also includes Graves disease. | |||
Data from Husebye ES, Perheentupa J, Rautemaa R, Kampe O: Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type 1. J Intern Med 265: 519–529, 2009; Trence DL, Morley JE, Handwerger BS: Polyglandular autoimmune syndromes. Am J Med 77(1):107–116, 1984; Leshin M: Polyglandular autoimmune syndromes. Am J Med Sci 290(2):77–88, 1985; Dittmar M, Kahaly GJ: Polyglandular autoimmune syndromes: immunogenetics and long-term follow-up. J Clin Endocrinol Metab 88:2983–2992, 2003; and Eisenbarth GS, Gottlieb PA: Autoimmune polyendocrine syndromes. N Engl J Med 350:2068–2079, 2004. | |||