A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies
The Korean Journal of Internal Medicine
;
: 45-50, 2007.
Article
Dans Anglais
| 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).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Puberté précoce
/
Maladies de la thyroïde
/
Acromégalie
/
Hyperprolactinémie
/
Taches café-au-lait
/
Sous-unités alpha Gs des protéines G
/
Dysplasie fibreuse polyostotique
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
The Korean Journal of Internal Medicine
Année:
2007
Type:
Article
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