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Lancet Diabetes Endocrinol. 2016 Oct;4(10):862-72. doi: 10.1016/S2213-8587(16)30095-X. Epub 2016 Jul 26.

Monogenic autoimmune diseases of the endocrine system.

Author information

1
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
2
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. Electronic address: s.flanagan@exeter.ac.uk.

Abstract

The most common endocrine diseases, type 1 diabetes, hyperthyroidism, and hypothyroidism, are the result of autoimmunity. Clustering of autoimmune endocrinopathies can result from polygenic predisposition, or more rarely, may present as part of a wider syndrome due to a mutation within one of seven genes. These monogenic autoimmune diseases show highly variable phenotypes both within and between families with the same mutations. The average age of onset of the monogenic forms of autoimmune endocrine disease is younger than that of the common polygenic forms, and this feature combined with the manifestation of other autoimmune diseases, specific hallmark features, or both, can inform clinicians as to the relevance of genetic testing. A genetic diagnosis can guide medical management, give an insight into prognosis, inform families of recurrence risk, and facilitate prenatal diagnoses.

PMID:
27474216
DOI:
10.1016/S2213-8587(16)30095-X
[Indexed for MEDLINE]

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