Pediatric autoimmune polyendocrine syndrome

What is pediatric autoimmune polyendocrine syndrome?

Autoimmune polyendocrine syndrome is a term used to describe when a child has at least two of these three specific autoimmune disorders.

These may develop over time during childhood: 

• Addison’s disease - A condition in which the adrenal glands are unable to produce enough of the hormones cortisol (regulates metabolism) and aldosterone (regulates blood pressure).  

• Chronic mucocutaneous candidiasis (CMC) - A fungal infection of the skin, nails and mucous membranes. 

• Hypoparathyroidism - A condition in which the parathyroid glands do not make enough parathyroid hormone (PTH), which regulates calcium and phosphorous levels in the blood.

What are the signs and symptoms of pediatric autoimmune polyendocrine syndrome?

Symptoms of autoimmune polyendocrine syndrome depend on which glands are affected and which types of autoimmune disorders the child develops.

Symptoms of Addison’s disease include:

• Craving salt or salty foods

• Decreased appetite

• Depression

• Diarrhea 

• Extreme fatigue (tiredness)

• Fainting

• Hyperkalemia (high potassium)

• Hyperpigmentation (darkening of the skin)

• Hypoglycemia (low blood sugar)

• Hyponatremia (low sodium)

• Hypotension (low blood pressure) 

• Irritability

• Muscle or joint pain

• Nausea or vomiting

• Pain in the abdomen, lower back or legs

• Weight loss

Symptoms of chronic mucocutaneous candidiasis (CMC) include:

• Chronic diaper rash in infants

• Recurring skin, scalp and nail infections

• Recurring thrush (yeast infection in the mouth)

• Recurring vaginal yeast infections 

• Thick, cracked and discolored nails

Symptoms of hypoparathyroidism include:

• Brittle nails

• Extremely dry skin

• Extreme fatigue (tiredness)

• Hair loss

• Leg cramps

• Muscle aches

• Muscle spasms around the mouth, throat, arms and hands

• Tingling in fingertips, toes and lips

What are the causes of pediatric autoimmune polyendocrine syndrome?

Autoimmune polyendocrine syndrome is a rare genetic disorder that happens when both parents carry a mutated autoimmune regulator gene, called the AIRE gene, and pass it on to their child.