Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs)^[3] or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group^[4] 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.^[2][5][6]

Quick Facts Other names, Specialty ...

Autoimmune polyendocrine syndrome
Other names	Autoimmune polyglandular syndromes (APSs)
The autoimmune regulator protein (from the AIRE gene, which causes autoimmune polyendocrine syndrome type 1 when non-functional)
Specialty	Endocrinology
Types	APS type1, APS type 2, IPEX syndrome
Causes	FOXP3 gene is involved in the mechanism [1]
Diagnostic method	Endoscopic, CT scan[2]
Treatment	Depends on type

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• Autoimmune polyendocrine syndrome type 1,^[2] an autosomal recessive syndrome due to mutation of the AIRE gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others.
• Autoimmune polyendocrine syndrome type 2,^[7] an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes.
• Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the FOXP3 gene on the X chromosome. Most patients develop diabetes and diarrhea and many die due to autoimmune activity against many organs. Boys are affected, while girls are carriers and might experience mild disease.^{[2][8][9][10]}

Each "type" of this condition has a different genetic cause. IPEX syndrome is inherited in males by an X-linked recessive process. The FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in the mechanism of the IPEX condition.^[11][1]

Diagnosis for type 1 of this condition for example, sees that the following methods/tests are available:^[2]

• Endoscopic
• CT scan
• Histologic test

Immunosuppressive therapy may be used in type I of this condition.^[13] Ketoconazole can also be used for type I under certain conditions.^[2]

The component diseases are managed as usual; the challenge is to detect the possibility of any of the syndromes and to anticipate other manifestations. For example, in a person with known type 2 autoimmune polyendocrine syndrome but no features of Addison's disease, regular screening for antibodies against 21-hydroxylase may prompt early intervention and hydrocortisone replacement to prevent characteristic crises ^{[medical citation needed]}

• Immunosuppression