A Case of Atypical McCune-Albright Syndrome Associated with Hyperthyroidism / 대한내분비학회지
Journal of Korean Society of Endocrinology
;
: 158-164, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-182996
ABSTRACT
McCune-Albright syndrome (MAS) is a sporadic disease that's characterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, and multiple endocrinopathies, including sexual precocity, hyperthyroidism, acromegaly, and hypercortisolism. Recent evidence has shown that the clinical manifestations are caused by a postzygotic activating missense mutation in the gene coding for the alpha-subunit of Gs protein that stimulates c-AMP formation in the affected tissues. Substitution of the Arg(201) residue in Gsalpha with cysteine or histidine have been identified in many MAS patients and Arg(201) to Gly or Leu mutations have also been recently identified. We identified the Arg(201) to His mutation in the gene encoding Gsalpha in the thyroid tissue from a 36-year-old man who was suffering with polyostotic fibrous dysplasia and hyperthyroidism.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Pele
/
Glândula Tireoide
/
Acromegalia
/
Pigmentação
/
Mutação de Sentido Incorreto
/
Síndrome de Cushing
/
Cisteína
/
Codificação Clínica
/
Displasia Fibrosa Poliostótica
/
Histidina
Limite:
Adulto
/
Humanos
Idioma:
Coreano
Revista:
Journal of Korean Society of Endocrinology
Ano de publicação:
2006
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS