Familial short stature with IGF-I receptor gene anomaly [Review]

[摘要] References(28)Cited-By(3)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 (IGF-IR gene anomaly.

[学科分类] 内分泌与代谢学

[关键词] Insulin-like growth factor (IGF);IGF-I receptor;Intrauterine and postnatal growth retardation;Short stature