Polyglandular deficiency syndromes are hereditary disorders in which several endocrine (hormone-producing) glands malfunction.
Endocrine glands are organs that secrete one or more specific hormones. The actual cause of the endocrine gland malfunctioning may be related to an autoimmune reaction in which the body's immune defenses mistakenly attack the body’s own cells. Genetic factors and environmental triggers (such as viral infections, dietary factors, or certain medications) may be involved. Polyglandular deficiency syndromes are classified into 3 types:
Type 1: Type 1 is also called autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED). In this type, which develops in children, the parathyroid glands and adrenal glands can be underactive. Affected people may be prone to chronic yeast infections (called chronic mucocutaneous candidiasis) as well. Yeast infections may be the first sign of a problem, particularly in children younger than 5 years. People may have other autoimmune disorders, including thyroid disease, diabetes mellitus, autoimmune hepatitis, and certain digestive system disorders that cause difficulty absorbing nutrients (malabsorption).
Type 2: Type 2 is also called Schmidt syndrome. In this type, which develops in adults (particularly women), the adrenal and thyroid glands are underactive, although the thyroid gland sometimes becomes overactive. People with type 2 polyglandular deficiency may also develop diabetes.
Type 3: This type is very similar to type 2, except that the adrenal glands remain normal.
In people with polyglandular deficiency syndromes, symptoms depend on which endocrine organs are affected. The hormone deficiencies do not always appear at the same time and may require a period of years to develop. The deficiencies do not occur in a particular sequence, and not every person will have all of the deficiencies associated with each type.
Symptoms of Polyglandular Deficiency Syndromes
In people with polyglandular deficiency syndromes, symptoms depend on which endocrine organs are affected.
Underactive adrenal gland: Weakness, loss of appetite, vomiting, dark skin patches, and, in severe cases, low blood pressure and death if not treated
Underactive thyroid gland: Weight gain, constipation, dry hair and skin, and sometimes inability to tolerate cold weather
Underactive parathyroid gland: Tingling around the mouth, cramping of hands and feet, and seizures
Diagnosis of Polyglandular Deficiency Syndromes
Blood tests to measure hormone levels
Doctors suspect a polyglandular deficiency syndrome because of the specific symptoms. The diagnosis is confirmed by detecting deficient hormone levels in a sample of blood. Sometimes doctors also measure specific antibodies to look for an autoimmune reaction to the affected gland.
Because other endocrine organs may not malfunction for many years, doctors usually do blood tests at regular intervals in people with hormone deficiencies to ensure that any new hormone deficiency is identified as soon as possible.
Because these syndromes are often inherited, genetic testing of the affected person's relatives may be done.
Treatment of Polyglandular Deficiency Syndromes
Hormone replacement
Treatment is replacement of any hormones that are deficient. Treatment of multiple hormone deficiencies may be more complex than treating deficiency of a single hormone.
People who are prone to yeast infections may need long-term treatment with an antifungal medication.
In some cases, immunosuppressants are used to treat the autoimmune reaction seen in these disorders.
