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Autoimmune polyendocrine syndrome type 2

Evidence: Antibody

Names

APS2
Autoimmune polyendocrine syndrome type 2
Autoimmune polyglandular syndrome type II
Carpenter syndrome
Multiple endocrine deficiency syndrome, type 2
PGA 2
PGA-II
Polyglandular autoimmune syndrome, type 2
Polyglandular deficiency syndrome type 2
Schmidt syndrome

Description

Autoimmune polyendocrine syndrome type II is a rare autoimmune disorder characterized by a significant reduction in the production of several essential hormones due to underactive hormone-secreting glands. Initially, this disorder was believed to only involve adrenal insufficiency (Addison’s disease) and thyroid insufficiency (Hashimoto’s thyroiditis). However, further studies have revealed that it also includes dysfunctions in other endocrine glands, such as the gonads (which secrete sex hormones), the pancreas (which secretes insulin and is closely linked to diabetes mellitus), and occasionally the parathyroid glands. This glandular failure often leads to malnutrition due to a severe decrease in the intestinal tract's ability to absorb nutrients. Most cases of this disorder are sporadic, though some clinical researchers suspect a familial or hereditary component to APS-II, potentially involving a complex interplay of multiple genes.

Patient Groups

None

Bloggers

None

Prevalence

Rare (no published data)

Typical Age of onset

30 to 50 years old (source: Medscape)

Symptoms

Based on specific contributing diseases:

  • Weight loss 

  • Fatigue 

  • Nausea/vomiting 

  • Generalized weakness 

  • Anorexia 

  • An enlarged thyroid gland in the neck

  • A dull facial expression

  • Puffiness and swelling around the eyes

  • Drooping eyelids

  • Thinning hair which is coarse and dry

  • Poor memory

  • Intermittent blurred vision

  • Poor skin turgor

  • Cold intolerance