Familial short stature with IGF-I receptor gene anomaly [Review]
-
- 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
この論文をさがす
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
- Tweet
キーワード
詳細情報 詳細情報について
-
- CRID
- 1390001206299740544
-
- NII論文ID
- 10030748947
- 130004443791
-
- NII書誌ID
- AA10901436
-
- COI
- 1:STN:280:DC%2BC38zms1Srtw%3D%3D
-
- ISSN
- 13484540
- 09188959
-
- PubMed
- 22008389
-
- 本文言語コード
- en
-
- データソース種別
-
- JaLC
- Crossref
- PubMed
- CiNii Articles
- KAKEN
-
- 抄録ライセンスフラグ
- 使用不可