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Pseudohypoparathyroidism type Ib in 2015.
Ann Endocrinol (Paris) 2015; 76(2):101-4AE

Abstract

The term pseudohypoparathryoidism (PHP) refers to a group of rare genetic and epigenetic disorders characterized by resistance to the action of parathyroid hormone (PTH) that activates cAMP signaling in target cells. Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, mental retardation and endocrine deficiencies due to resistance to the action of different hormones. The two main subtypes, PHP-Ia and PHP-Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster respectively, while mutations in the PRKAR1A and PDE4D genes (also involved in mediating cAMP signalling) have been demonstrated in patients with acrodysostosis, a disease of bone formation with characteristics similar to AHO. The molecular overlap among these disorders indicates the need for different classification models and seriously alters our understanding of the mechanisms through which GNAS defects, together with the new recently described defects involving other components of the cAMP signalling cascade, cause AHO-related disorders.

Authors+Show Affiliations

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 35, 20122 Milan, Italy. Electronic address: giovanna.mantovani@unimi.it.Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology and Diabetology Unit, Department of Clinical Sciences and Community Health, University of Milan, Via F. Sforza, 35, 20122 Milan, Italy.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

25910998

Citation

Mantovani, Giovanna, and Francesca M. Elli. "Pseudohypoparathyroidism Type Ib in 2015." Annales D'endocrinologie, vol. 76, no. 2, 2015, pp. 101-4.
Mantovani G, Elli FM. Pseudohypoparathyroidism type Ib in 2015. Ann Endocrinol (Paris). 2015;76(2):101-4.
Mantovani, G., & Elli, F. M. (2015). Pseudohypoparathyroidism type Ib in 2015. Annales D'endocrinologie, 76(2), pp. 101-4. doi:10.1016/j.ando.2015.03.028.
Mantovani G, Elli FM. Pseudohypoparathyroidism Type Ib in 2015. Ann Endocrinol (Paris). 2015;76(2):101-4. PubMed PMID: 25910998.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pseudohypoparathyroidism type Ib in 2015. AU - Mantovani,Giovanna, AU - Elli,Francesca M, Y1 - 2015/04/21/ PY - 2015/03/11/received PY - 2015/03/11/accepted PY - 2015/4/26/entrez PY - 2015/4/26/pubmed PY - 2016/2/19/medline KW - Albright hereditary osteodystrophy KW - Empreinte KW - GNAS KW - Imprinting KW - Ostéodytrophie héréditaire d’Albright KW - Pseudohypoparathyroidism KW - Pseudohypoparathyroïdie SP - 101 EP - 4 JF - Annales d'endocrinologie JO - Ann. Endocrinol. (Paris) VL - 76 IS - 2 N2 - The term pseudohypoparathryoidism (PHP) refers to a group of rare genetic and epigenetic disorders characterized by resistance to the action of parathyroid hormone (PTH) that activates cAMP signaling in target cells. Together with pseudohypoparathyroidism, Albright hereditary osteodystrophy (AHO) and progressive osseous heteroplasia (POH) represent rare, related and deeply impairing disorders encompassing heterogeneous features, such as brachydactyly, ectopic ossifications, short stature, mental retardation and endocrine deficiencies due to resistance to the action of different hormones. The two main subtypes, PHP-Ia and PHP-Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster respectively, while mutations in the PRKAR1A and PDE4D genes (also involved in mediating cAMP signalling) have been demonstrated in patients with acrodysostosis, a disease of bone formation with characteristics similar to AHO. The molecular overlap among these disorders indicates the need for different classification models and seriously alters our understanding of the mechanisms through which GNAS defects, together with the new recently described defects involving other components of the cAMP signalling cascade, cause AHO-related disorders. SN - 2213-3941 UR - https://www.unboundmedicine.com/medline/citation/25910998/Pseudohypoparathyroidism_type_Ib_in_2015_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0003-4266(15)00075-X DB - PRIME DP - Unbound Medicine ER -