Autoimmune Polyendocrine Syndrome

Also known as: APS 1, autoimmune polyglandular syndrome, polyglandular autoimmune syndrome.

What is autoimmune polyendocrine syndrome?

The endocrine system is composed of several glands that produce hormones, known as endocrine glands, essential to human function. An autoimmune disorder is one in which the body’s immune system mistakenly attacks its own organs and tissues. When this autoimmune reaction attacks many of the body’s tissues and endocrine glands, the condition is known autoimmune polyendocrine syndrome. While rare, it affects girls more often than boys and seems to be limited to particular ethnic groups such as Fins, Sardinians, Iranian Jews, and those from parts of northern Italy, Britain and Europe. There are two types; Types 1 and 11, which usually occurs in adults 30-40 years of age.

What causes autoimmune polyendocrine syndrome?

Ap-1 is an autosomal recessive genetic disorder (both parents involved) caused by a large number of mutations in a gene (AIRE) that regulates the body’s immune system.

What are the symptoms of autoimmune polyendocrine syndrome?

Symptoms and side-effects vary widely depending on what form of autoimmune polyendocrine syndrome is present and which tissues and glands are affected, as adrenals and parathyroid are common. Affected children will usually have at least two of the following; a recurring fungal infection of the skin, nails and mucous membranes; poor function of the parathyroid glands with resulting low parathyroid hormone as well as possible tingling in fingertips, toes and lips. Symptoms may also include muscle aches and fatigue; and/or adrenal insufficiency with low cortisol production giving rise to weakness, muscle cramps, nausea, vomiting, diarrhoea, low blood pressure and dehydration.

What are autoimmune polyendocrine syndrome care options?

Treatment varies widely depending on the abnormalities present; typically it includes hormone replacement therapy and antifungal medications.


Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: November 24, 2021 10:49 AM

Pediatric Endocrinology and Diabetes

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Autoimmune Diseases

An autoimmune disease occurs when the body’s immune system (the body's natural defense system against bacteria, viruses and other foreign invaders) mistakenly attacks its own organs and tissues. Learn more

Adrenal Disorders

One adrenal gland lies above each kidney. These manufacture a number of hormones that are vital to many bodily functions. When the adrenal glands produce too little or too much of one or more hormones significant health problems occur and these conditions are generally known as adrenal disorders. Learn more