A Case of McCune-Albright Syndrome with Associated Multiple Endocrinopathies
The Korean Journal of Internal Medicine
;
: 45-50, 2007.
Article
in English
| 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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Puberty, Precocious
/
Thyroid Diseases
/
Acromegaly
/
Hyperprolactinemia
/
Cafe-au-Lait Spots
/
GTP-Binding Protein alpha Subunits, Gs
/
Fibrous Dysplasia, Polyostotic
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
The Korean Journal of Internal Medicine
Year:
2007
Type:
Article
Similar
MEDLINE
...
LILACS
LIS