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Hypoparathyroidism and Pseudohypoparathyroidism

  • Rajesh V. ThakkerEmail author
Chapter

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.

Keywords

Hypoparathyroidism Hypocalcemia Hyperphosphataemia DiGeorge syndrome Autoimmune Hypomagnesaemia Pluriglandular disorder Endocrinopathy Normal serum calcium Subcapsular cataract Papilloedema 25 Hydroxy vitamin D 1,25 Dihydroxy vitamin D Pseudohypoparathyroidism Tetany Calcium gluconate Celiac disease Persistent hypocalcemia Cholecalciferol Ergocalciferol Alfacalcidiol Calcitriol Hypercalciuria Hypercalcemia Autosomal disorder X-linked disorder Infiltrating metastases Seizures PTH gene mutation Chromosome 11p15 Autosomal dominant isolated hyperparathyroidism Autosomal recessive hypoparathyroidism Calcium receptor GCMB gene X-linked recessive hypoparathyroidism Sox 3 gene SRY gene Acquired hypoparathyroidism Hemochromatosis Amyloidosis Sarcoidosis Thalassemia Wilson’s disease Neonatal hypoparathyroidism Kenney Caffey syndrome Barakat syndrome Dysmorphic features Lymphoedema Deafness Renal dysplasia Haploinsufficiency Mitochondrial disorders Kearns-Sayre syndrome MELAS syndrome Opthalmoplegia Pigmentary retinopathy Cardiomyopathy Lactic ­acidosis Diabetes mellitus Sensorineural deafness Trifunctional ­protein deficiency Osteosclerosis Nanophthalmos Hyperopia Kirk-Richardson syndrome Sanjad–Sakati syndrome Tubulin-specific chaperone Brachytelephalangy Blomstrand disease Chondrodysplasia Pluriglandular autoimmune hypoparathyroidism Candidiasis Hypogonadism Steatorrhea Alopecia Vitiligo Autoimmune polyglandular candidiasis ectodermal dystrophy Polyglandular autoimmune type 1 syndrome Autoantibodies Addison’s disease Diabetes mellitus type 1 Inflammasome Innate immune system Familial benign hypocalciuric hypercalcemia Barter syndrome type 5 Hypokalemic alkalosis Hyperrenninemia Hyperaldosteronism Gain-of-function mutation Inactivating mutation Carpopedal spasm Nephrocalcinosis Autoimmune acquired hypoparathyroidism Pseudohypoparathyroidism type 1a and 1b Pseudopseudohypoparathyroidism Albright’s hereditary osteodystrophy Dental hypoplasia Brachydactyly Adenyl cyclase Parathyroid hormone-related protein GNAS gene 

Notes

Acknowledgements

I am grateful: to the Medical Research Council (UK) for support and to Mrs Tracey Walker for typing the manuscript and for expert secretarial assistance.

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© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.Nuffield Department of MedicineUniversity of Oxford, OCDEM, Churchill HospitalOxfordUK

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