A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies
The Korean Journal of Internal Medicine
;
: 45-50, 2007.
Artigo
em Inglês
| WPRIM
| ID: wpr-199144
ABSTRACT
McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, skin pigmentation, acromegaly, hyperprolactinemia and a thyroid nodule. A 23-year-old male presented for an evaluation of a change in his facial structures. Fibrous dysplasia was diagnosed by a bone biopsy and radiographic studies. The GH level increased paradoxically after an oral glucose load. The plasma prolactin, IGF-1 and alkaline phosphatase were high. Thyroid ultrasonography revealed multiple nodules. The brain MRI demonstrated a mass in the left pituitary gland. Genetic analysis identified a change from Arg (CGT) at codon 201 to Cys (TGT).
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Puberdade Precoce
/
Doenças da Glândula Tireoide
/
Acromegalia
/
Hiperprolactinemia
/
Manchas Café com Leite
/
Subunidades alfa Gs de Proteínas de Ligação ao GTP
/
Displasia Fibrosa Poliostótica
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
The Korean Journal of Internal Medicine
Ano de publicação:
2007
Tipo de documento:
Artigo
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