Familial short stature with IGF-I receptor gene anomaly

被引:16
作者
Kawashima, Yuki [1 ]
Takahashi, Shin-Ichiro [2 ,3 ]
Kanzaki, Susumu [1 ]
机构
[1] Tottori Univ, Div Pediat & Perinatol, Fac Med, Yonago, Tottori 6838504, Japan
[2] Univ Tokyo, Dept Anim Sci, Tokyo 1138657, Japan
[3] Univ Tokyo, Dept Appl Biol Chem, Tokyo 1138657, Japan
关键词
Insulin-like growth factor (IGF); IGF-I receptor; Intrauterine and postnatal growth retardation; Short stature; FOR-GESTATIONAL-AGE; POSTNATAL-GROWTH RETARDATION; DISTAL LONG ARM; HORMONE THERAPY; CHILD BORN; INSULIN; MICE; HAPLOINSUFFICIENCY; INTRAUTERINE; MUTATION;
D O I
10.1507/endocrj.EJ11-0258
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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 GM 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.
引用
收藏
页码:179 / 185
页数:7
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