Genetics of hypoparathyroidism and pseudohypoparathyroidism.

M L Brandi

Journal: Journal of endocrinological investigation 2012;34(7 Suppl):27-34

PMID: 21985977

Abstract

Congenital hypoparathyroidism encompasses a series of disorders chracterized by the common biochimical feature of symptomatic hypocalcemia with concomitant hypophosphoremia. Clinical features differ among the various parathyroid-related hypocalcemic syndromes, as understandable on the basis of disorder-specific genetics. The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes.

Address: Unit of Bone and Mineral Metabolism, Department of Internal Medicine, University of Florence, Medical School, Viale Pieraccini, 6 - 50139 Florence, Italy. [email protected]

MeSH Terms: Abnormalities, Multiple, Autoimmune Diseases, DiGeorge Syndrome, Exostoses, Multiple Hereditary, Growth Disorders, Humans, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Intellectual Disability, Male, Nuclear Proteins, Osteochondrodysplasias, Pseudohypoparathyroidism, Receptors, Calcium-Sensing, Seizures, Transcription Factors