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Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation

2014-08-27 03:58:02 | BioPortfolio

Summary

OBJECTIVES:

I. Determine if mutations in the gene encoding the insulin-like growth factor-I receptor lead to relative insulin-like growth factor-I insensitivity and produce intrauterine growth retardation in children.

Description

PROTOCOL OUTLINE:

Patients undergo blood draw. Insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) are measured. Patients whose IGF-I and IGFBP-3 levels are average or above are tested for the presence of mutation in the insulin-like growth factor-I receptor.

Study Design

Primary Purpose: Screening

Conditions

Intrauterine Growth Retardation

Location

Emory University School of Medicine
Atlanta
Georgia
United States
30322

Status

Recruiting

Source

National Center for Research Resources (NCRR)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:58:02-0400

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Medical and Biotech [MESH] Definitions

Spontaneous loss of INTRAUTERINE DEVICES from the UTERUS.

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.

A condition caused by autosomal recessive gene mutations leading to hypogenesis or absence (agenesis) or of CORPUS CALLOSUM, the band of nerve fibers joining the two CEREBRAL HEMISPHERES. Clinical features include MENTAL RETARDATION; CRANIOFACIAL ABNORMALITIES; digital malformations, and growth retardation.

The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.

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