Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration
Short stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for short stature related to IGF1R gene alteration in Jap...
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The Japan Endocrine Society
2024-07-01
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| Series: | Endocrine Journal |
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| Online Access: | https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ23-0680/_html/-char/en |
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| author | Yuki Kawashima-Sonoyama Keisuke Wada Kei Yamamoto Masanobu Fujimoto Noriyuki Namba Takeshi Taketani |
| author_facet | Yuki Kawashima-Sonoyama Keisuke Wada Kei Yamamoto Masanobu Fujimoto Noriyuki Namba Takeshi Taketani |
| author_sort | Yuki Kawashima-Sonoyama |
| collection | DOAJ |
| description | Short stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for short stature related to IGF1R gene alteration in Japan, and genetic testing is not yet widely accessible. We investigated short stature with IGF1R gene alterations and analyzed the clinical data of 13 patients using the results of questionnaires issued to the Japanese Society for Pediatric Endocrinology. Four cases were caused by a deletion of chromosome 15q26.3, and eight were caused by heterozygous pathogenic variants in the IGF1R gene. Cases with deletions showed a more severe degree of growth impairment (–4.5 ± 0.43 SD) than those caused by pathological variants (–2.71 ± 0.15 SD) and were accompanied by neurodevelopmental delay. However, cases caused by pathological variants lacked distinctive features. Only three of the 12 cases demonstrated serum IGF1 values exceeding +2 SD, and the other three had values below 0 SD. Four patients did not meet the criteria for SGA at birth. Six patients received GH therapy for SGA short stature and showed improvement in growth rate without any side effects or elevated serum IGF1 levels during treatment. Elevated IGF1 levels (over +2 SD) after GH treatment should be considered a suspicious finding. Owing to the lack of distinctive features, there was a possibility of undiagnosed cases of this condition. Promoting genetic testing and clinical trials on GH administration for this condition is recommended. |
| format | Article |
| id | doaj-art-ae4200e683cb4784a31394e6cc26d5e8 |
| institution | Kabale University |
| issn | 1348-4540 |
| language | English |
| publishDate | 2024-07-01 |
| publisher | The Japan Endocrine Society |
| record_format | Article |
| series | Endocrine Journal |
| spelling | doaj-art-ae4200e683cb4784a31394e6cc26d5e82025-01-22T05:12:18ZengThe Japan Endocrine SocietyEndocrine Journal1348-45402024-07-0171768769410.1507/endocrj.EJ23-0680endocrjClinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alterationYuki Kawashima-Sonoyama0Keisuke Wada1Kei Yamamoto2Masanobu Fujimoto3Noriyuki Namba4Takeshi Taketani5Department of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, JapanDivision of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Tottori 683-8504, JapanDivision of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Tottori 683-8504, JapanDepartment of Pediatrics, Shimane University Faculty of Medicine, Shimane 693-8501, JapanShort stature with IGF-1 receptor (IGF1R) gene alteration is known as small-for-gestational-age (SGA) short stature with elevated serum IGF1 levels. Its prevalence and clinical characteristics remain unclear. No adapted treatment is available for short stature related to IGF1R gene alteration in Japan, and genetic testing is not yet widely accessible. We investigated short stature with IGF1R gene alterations and analyzed the clinical data of 13 patients using the results of questionnaires issued to the Japanese Society for Pediatric Endocrinology. Four cases were caused by a deletion of chromosome 15q26.3, and eight were caused by heterozygous pathogenic variants in the IGF1R gene. Cases with deletions showed a more severe degree of growth impairment (–4.5 ± 0.43 SD) than those caused by pathological variants (–2.71 ± 0.15 SD) and were accompanied by neurodevelopmental delay. However, cases caused by pathological variants lacked distinctive features. Only three of the 12 cases demonstrated serum IGF1 values exceeding +2 SD, and the other three had values below 0 SD. Four patients did not meet the criteria for SGA at birth. Six patients received GH therapy for SGA short stature and showed improvement in growth rate without any side effects or elevated serum IGF1 levels during treatment. Elevated IGF1 levels (over +2 SD) after GH treatment should be considered a suspicious finding. Owing to the lack of distinctive features, there was a possibility of undiagnosed cases of this condition. Promoting genetic testing and clinical trials on GH administration for this condition is recommended.https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ23-0680/_html/-char/eninsulin-like growth factor 1 receptor (igf1r)short staturegh therapy |
| spellingShingle | Yuki Kawashima-Sonoyama Keisuke Wada Kei Yamamoto Masanobu Fujimoto Noriyuki Namba Takeshi Taketani Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration Endocrine Journal insulin-like growth factor 1 receptor (igf1r) short stature gh therapy |
| title | Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration |
| title_full | Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration |
| title_fullStr | Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration |
| title_full_unstemmed | Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration |
| title_short | Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration |
| title_sort | clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin like growth factor receptor igf1r gene alteration |
| topic | insulin-like growth factor 1 receptor (igf1r) short stature gh therapy |
| url | https://www.jstage.jst.go.jp/article/endocrj/71/7/71_EJ23-0680/_html/-char/en |
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