Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos

Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype...

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Autores principales:	Peña,Carolina, Pinochet,Constanza, Florenzano,Pablo, Mendoza,Carolina, Garfias,Carolina, Aracena,Marcela, Mellado,Cecilia, González,Gilberto
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2018
Materias:	Calcium Metabolism Disorders Fibrous Dysplasia, Polyostic Phosphorus Metabolism Disorders Pseudohypoparathyroidism Pseudopseudohypoparathyroidism
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100116
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spelling	oai:scielo:S0034-988720180001001162018-05-11Pseudohipoparatiroidismo de presentación tardía: reporte de dos casosPeña,CarolinaPinochet,ConstanzaFlorenzano,PabloMendoza,CarolinaGarfias,CarolinaAracena,MarcelaMellado,CeciliaGonzález,Gilberto Calcium Metabolism Disorders Fibrous Dysplasia, Polyostic Phosphorus Metabolism Disorders Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.146 n.1 20182018-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100116es10.4067/s0034-98872018000100116
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Calcium Metabolism Disorders Fibrous Dysplasia, Polyostic Phosphorus Metabolism Disorders Pseudohypoparathyroidism Pseudopseudohypoparathyroidism
spellingShingle	Calcium Metabolism Disorders Fibrous Dysplasia, Polyostic Phosphorus Metabolism Disorders Pseudohypoparathyroidism Pseudopseudohypoparathyroidism Peña,Carolina Pinochet,Constanza Florenzano,Pablo Mendoza,Carolina Garfias,Carolina Aracena,Marcela Mellado,Cecilia González,Gilberto Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
description	Pseudohypoparathyroidism (PHP) is a group of rare genetic disorders that share organ targeted resistance to the action of parathyroid hormone (PTH) as a common feature. Biochemically, they may present with hypocalcemia, hyperphosphatemia and elevated PTH. Some forms present with a specific phenotype: short stature, round facies, short neck, obesity, brachydactyly and subcutaneous calcifications, called Albrigth's Hereditary Osteodystrophy (AHO). This spectrum of disorders are caused by several alterations in the gene coding for the alpha subunit of the G protein (GNAS): an ubiquitous signaling protein that mediates the action of numerous hormones such as PTH, TSH, gonadotropins, and ACTH, among others. According to their inheritance with maternal or paternal imprinting, they may manifest in a diversity of clinical forms. Although most commonly diagnosed during childhood, PHP may manifest clinically during adolescence or early adulthood. We report two late presenting cases of pseudohypoparathyroidism. A 21-year-old female with biochemical abnormalities characteristic of pseudohypoparathyroidism who was misdiagnosed as epilepsy and a 13-year-old boy with the classic AHO phenotype but without alterations in phospho-calcium metabolism, compatible with pseudopseudohypoparathyrodism.
author	Peña,Carolina Pinochet,Constanza Florenzano,Pablo Mendoza,Carolina Garfias,Carolina Aracena,Marcela Mellado,Cecilia González,Gilberto
author_facet	Peña,Carolina Pinochet,Constanza Florenzano,Pablo Mendoza,Carolina Garfias,Carolina Aracena,Marcela Mellado,Cecilia González,Gilberto
author_sort	Peña,Carolina
title	Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
title_short	Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
title_full	Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
title_fullStr	Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
title_full_unstemmed	Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
title_sort	pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
publisher	Sociedad Médica de Santiago
publishDate	2018
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872018000100116
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Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos

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