Familial short stature with IGF-I receptor gene anomaly.
Type I insulin-like growth factor receptor (IGF-IR) is widely expressed across many cell types in fetal and postnatal tissues.  The activation of this receptor after the binding of secreted IGF-I and IGF-II promotes cell differentiation and proliferation.  IGF-IR has an important role in normal fetal and postnatal growth and development.  IGF-IR gene anomalies presenting with intrauterine and postnatal growth retardation have recently been reported in some families.  Familial short stature with IGF-IR gene anomaly is considered rare, and the clinical condition and features remain unknown.  IGF-IR gene anomaly such as heterozygous IGF-IR mutation or haploinsufficiency of the IGF-IR gene should be investigated in those patients presenting with 1) low birth weight and birth height (< -1.5 SD), 2) a familial history of low birth weight, 3) a normal or increased IGF-I level, 4) a normal or increased GH response to the GH stimulation test, and/or 5) less response to GH treatment than common small for gestational age (SGA) short-stature patients.  In this review, we provide an overview of current knowledge of familial short stature with IGF-IR gene anomaly.
Division of Pediatrics & Perinatology, Tottori University, Yonago 683-8504, Japan. yuki.kawashima@med.tottori-u.ac.jp
Yuki
Y
Kawashima
Shin-Ichiro
S
Takahashi
Susumu
S
Kanzaki
D000818:Animals; D001827:Body Height / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000235:genetics / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D017526:Receptor, IGF Type 1 / Q000235:genetics* / Q000378:metabolism
D007334:Insulin-Like Growth Factor I; D017526:Receptor, IGF Type 1