A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies
The Korean Journal of Internal Medicine
; : 45-50, 2007.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-199144
Biblioteca responsable:
WPRO
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:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Pubertad Precoz
/
Enfermedades de la Tiroides
/
Acromegalia
/
Hiperprolactinemia
/
Manchas Café con Leche
/
Subunidades alfa de la Proteína de Unión al GTP Gs
/
Displasia Fibrosa Poliostótica
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
The Korean Journal of Internal Medicine
Año:
2007
Tipo del documento:
Artículo