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APECED Syndrome
Condition Overview: APECED Syndrome is a very rare genetic syndrome involving the autoimmune system. It is a combination of several distinct disorders and is defined as the subnormal functioning of several endocrine glands at the same time (concurrently). The acronym APECED stands for Autoimmune Polyendocrinopathy (APE), Candidiasis (C) and Ectodermal Dysplasia (ED). Autoimmune disease affecting one gland is frequently followed by the impairment of other glands. In this syndrome two major patterns of failure have been described.Type I affects children and adults younger than age 35. It is characterized by below normal secretion of the parathyroid gland (hypoparathyroidism--79%) and the failure of the adrenal cortex to secrete normal volumes of hormones (72%). About 60% of women and about 15% of men fail to mature sexually (hypogonadism). A persistant fungal infection (mucocutaneous candidiasisis) is common and chronic. Type II more frequently strikes adults with peak incidence at about 30 years. Almost invariably it involves the adrenal cortex with thyroid involvement somewhat less frequent. It may also involve the pancreatic islets producing an insulin-dependent diabetes mellitus. |
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