Growth hormone (GH), insulin-like growth factors (IGFs), and IGF-binding protein-3 (IGFBP-3) in a child with Proteus syndrome.
Am J Med Genet
; 50(2): 204-10, 1994 Apr 01.
Article
in En
| MEDLINE
| ID: mdl-7516626
ABSTRACT
Proteus syndrome is a congenital hamartomatous disorder characterized by partial overgrowth involving all germ layers. A somatic mutation model has been proposed since familial cases are extremely rare. We report on a 3-year-old girl with typical manifestations of Proteus syndrome, including local, asymmetric hypertrophy of various parts of the body. Total body length was reduced. Serum levels of IGF-I and especially IGF-II and their major growth hormone dependent binding protein (IGFBP-3) were significantly reduced, although growth hormone secretion after a pharmacological stimulus was normal. In vitro studies of fibroblasts derived from hypertrophied tissue showed normal IGF-I production and somewhat reduced IGF-II and IGFBP-3 production as compared to normal human skin fibroblasts. Affinity cross-linking experiments showed that fibroblasts of the affect tissue in Proteus syndrome produced an unusual pattern of IGF bindings proteins containing large amounts of an IGFBP with high affinity to IGF-II. The data suggest that IGF production is generally disturbed in Proteus syndrome with imbalanced levels of specific IGFBP in affected tissue.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Insulin-Like Growth Factor I
/
Insulin-Like Growth Factor II
/
Growth Hormone
/
Carrier Proteins
/
Proteus Syndrome
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Am J Med Genet
Year:
1994
Type:
Article
Affiliation country:
Germany