autoimmune polyendocrine syndrome type 1

info · Endocrine

An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Signs and symptoms

Constriction of peripheral visual field
Hypocalcemic tetany
Recurrent oral thrush
Pancreatitis
Primary adrenal insufficiency
Pigmentary retinopathy
Decreased circulating parathyroid hormone level
Anti-side-chain cleavage enzyme antibody positivity
Recurrent mucocutaneous candidiasis
Recurrent fungal infections

Also known as: Autoimmune Polyglandular Syndrome I; Whitaker syndrome; autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy