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

DOI Web Site PubMed 被引用文献3件 参考文献53件
  • Kawashima Yuki
    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan
  • Takahashi Shin-Ichiro
    Departments of Animal Sciences and Applied Biological Chemistry, The University of Tokyo, Tokyo 113-8657, Japan
  • Kanzaki Susumu
    Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago 683-8504, Japan

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抄録

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.

収録刊行物

  • Endocrine Journal

    Endocrine Journal 59 (3), 179-185, 2012

    一般社団法人 日本内分泌学会

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