Abstract
Primary hypoparathyroidism may be transient or permanent, and the causes are many. Although in most cases primary hypoparathyroidism is acquired from damage to or removal of the parathyroid glands during a neck surgery, it is sometimes sporadic and idiopathic, but can be familial, congenital, and caused by genetic disease that exhibits autosomal recessive, X-linked recessive, or autosomal dominant transmission. Rarely, hypoparathyroidism occurs as one component of a complex autosomal recessive disorder (OMIM #. 240300) that features hypofunction of multiple endocrine glands as well as a variety of additional conditions due to an autoimmune pathogenesis. This entity has been called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) to reflect the diverse affected tissues, and is now often designated more succinctly as autoimmune polyendocrinopathy syndrome type 1 (APS1). In this chapter, the autoimmune aspects of primary hypoparathyroidism focusing on APS1 are reviewed.
Original language | English |
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Title of host publication | The Parathyroids |
Subtitle of host publication | Basic and Clinical Concepts: Third Edition |
Publisher | Elsevier Inc. |
Pages | 745-759 |
Number of pages | 15 |
ISBN (Print) | 9780123971661 |
DOIs | |
State | Published - 2015 |
Keywords
- Addison's disease
- Alopecia totalis
- Autoimmune polyendocrinopathy syndrome type 1 (APS1)
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
- Candidiasis
- DiGeorge anomaly
- Diabetes mellitus
- Moniliasis
- Pernicious anemia
- Thyroid disease