This patient's diagnosis of polyglandular failure type I was made on the basis of her peculiar clinical presentation (her history of oral ulcers, hyperpigmentation, postural drop in blood pressure, and significant family history) and the pertinent laboratory findings of decreased cortisol levels, elevated adrenocorticotropin level, and evidence of candidiasis on oral mucosal swab.
Polyglandular autoimmune syndromes (PGA) are rare immune endocrinopathies characterized by the coexistence of at least 2 endocrine gland insufficiencies that are based on autoimmune mechanisms. Associations with nonendocrine immune diseases also occur. PGA can be classified as type I (PGA-I) and type II (PGA-II), which is more common and is also known as Schmidt syndrome. A third type (type III) occurs in adults and does not affect the adrenal cortex, but does include 2 of the following: thyroid deficiency, pernicious anemia, type 1A diabetes mellitus, vitiligo, and alopecia.
PGA-I is also known by the terms autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), Whitaker syndrome, and autoimmune polyendocrine syndrome. It is a rare autosomal-recessive disorder that first manifests in early childhood and results in tissue-specific multiorgan autoimmunity, leading to decreased functioning of multiple glands. Endocrine organs such as the adrenal cortex, ovaries, and parathyroid glands are typically affected, which results in various clinical presentations, including hypocortisolism, hypoaldosteronism, delayed puberty, premature ovarian failure, and hypoparathyroidism with life-threatening hypocalcemia. PGA-I is clinically defined as the presence of at least 2 components of the classic triad of hypoparathyroidism, adrenal insufficiency, and mucocutaneous candidiasis.[3,4] HIV infection should also be considered in patients with oral candidiasis and adrenal insufficiency.
Chronic mucocutaneous candidiasis (CMC) generally occurs earlier than the other presentations of this syndrome and is the most frequently encountered of the 3 main diseases of PGA-I. It can appear as early as the first month of life or at any time up to 21 years of age, with the incidence peaking during early childhood. CMC is present in 73%-100% of those with PGA-I. Chronic hypoparathyroidism is the first endocrine disease to occur during the course of the disease, usually after CMC and before AD, and it usually occurs when the patient is less than 10 years of age. AD is usually the third condition to manifest, usually between 6 months and 41 years of age, with a peak around the age of 13 years. AD occurs in 60%-100% of cases of autoimmune polyglandular syndrome-1.
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