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Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos / Pseudohypoparathyroidism: report of two cases of late presentation
Peña, Carolina; Pinochet, Constanza; Florenzano, Pablo; Mendoza, Carolina; Garfias, Carolina; Aracena, Marcela; Mellado, Cecilia; González, Gilberto.
  • Peña, Carolina; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Pinochet, Constanza; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Florenzano, Pablo; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Mendoza, Carolina; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Garfias, Carolina; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Aracena, Marcela; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • Mellado, Cecilia; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
  • González, Gilberto; Pontificia Universidad Católica de Chile. Escuela de Medicina. Departamento de Endocrinología. Santiago. CL
Rev. méd. Chile ; 146(1): 116-121, ene. 2018. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-902629
ABSTRACT
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.
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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Pseudo-Hipoparatireoidismo Limite: Adolescente / Feminino / Humanos / Masculino Idioma: Espanhol Revista: Rev. méd. Chile Assunto da revista: Medicina Ano de publicação: 2018 Tipo de documento: Artigo País de afiliação: Chile Instituição/País de afiliação: Pontificia Universidad Católica de Chile/CL

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Texto completo: DisponíveL Índice: LILACS (Américas) Assunto principal: Pseudo-Hipoparatireoidismo Limite: Adolescente / Feminino / Humanos / Masculino Idioma: Espanhol Revista: Rev. méd. Chile Assunto da revista: Medicina Ano de publicação: 2018 Tipo de documento: Artigo País de afiliação: Chile Instituição/País de afiliação: Pontificia Universidad Católica de Chile/CL