Abstract
This chapter focuses on problems with hypoparathyroidism and pseudohypoparathyroidism, in contrast to previous chapters in which these problems were discussed in children. It provides clinical information on medical history, clinical symptoms and medical management. Up-to-date information is summarized about the genetic abnormalities associated with hypoparathyroid disorders as well as disorders such as pluriglandular autoimmune hypoparathyroidism. Blomstand's disease, mitochondrial disorders associated with hypoparathyroidism, and recessive hypoparathyroid.
Author supplied keywords
- 1,25 Dihydroxy vitamin D
- 25 Hydroxy vitamin D
- Acquired hypoparathyroidism
- Addison's disease
- Adenyl cyclase
- Albright's hereditary osteodystrophy
- Alfacalcidiol
- Alopecia
- Amyloidosis
- Autoantibodies
- Autoimmune
- Autoimmune acquired hypoparathyroidism
- Autoimmune polyglandular candidiasis ectodermal dystrophy
- Autosomal disorder
- Autosomal dominant isolated hyperparathyroidism
- Autosomal recessive hypoparathyroidism
- Barakat syndrome
- Barter syndrome type 5
- Blomstrand disease
- Brachydactyly
- Brachytelephalangy
- Calcitriol
- Calcium gluconate
- Calcium receptor
- Candidiasis
- Cardiomyopathy
- Carpopedal spasm
- Celiac disease
- Cholecalciferol
- Chondrodysplasia
- Chromosome 11p15
- Deafness
- Dental hypoplasia
- DiGeorge syndrome
- Diabetes mellitus
- Diabetes mellitus type 1
- Dysmorphic features
- Endocrinopathy
- Ergocalciferol
- Familial benign hypocalciuric hypercalcemia
- GCMB gene
- GNAS gene
- Gain-of-function mutation
- Haploinsufficiency
- Hemochromatosis
- Hyperaldosteronism
- Hypercalcemia
- Hypercalciuria
- Hyperopia
- Hyperphosphataemia
- Hyperrenninemia
- Hypocalcemia
- Hypogonadism
- Hypokalemic alkalosis
- Hypomagnesaemia
- Hypoparathyroidism
- Inactivating mutation
- Infiltrating metastases
- Inflammasome
- Innate immune system
- Kearns-Sayre syndrome
- Kenney Caffey syndrome
- Kirk-Richardson syndrome
- Lactic -acidosis
- Lymphoedema
- MELAS syndrome
- Mitochondrial disorders
- Nanophthalmos
- Neonatal hypoparathyroidism
- Nephrocalcinosis
- Normal serum calcium
- Opthalmoplegia
- Osteosclerosis
- PTH gene mutation
- Papilloedema
- Parathyroid hormone-related protein
- Persistent hypocalcemia
- Pigmentary retinopathy
- Pluriglandular autoimmune hypoparathyroidism
- Pluriglandular disorder
- Polyglandular autoimmune type 1 syndrome
- Pseudohypoparathyroidism
- Pseudohypoparathyroidism type 1a and 1b
- Pseudopseudohypoparathyroidism
- Renal dysplasia
- SRY gene
- Sanjad-Sakati syndrome
- Sarcoidosis
- Seizures
- Sensorineural deafness
- Sox 3 gene
- Steatorrhea
- Subcapsular cataract
- Tetany
- Thalassemia
- Trifunctional -protein deficiency
- Tubulin-specific chaperone
- Vitiligo
- Wilson's disease
- X-linked disorder
- X-linked recessive hypoparathyroidism
Cite
CITATION STYLE
Thakker, R. V. (2012). Hypoparathyroidism and pseudohypoparathyroidism. In Diseases of the Parathyroid Glands (Vol. 9781441955500, pp. 273–288). Springer New York. https://doi.org/10.1007/978-1-4419-5550-0_14
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