Clinical characteristics of and growth hormone treatment effects on short stature with type 1 insulin-like growth factor receptor (IGF1R) gene alteration

IF 1.3 4区 医学 Q4 ENDOCRINOLOGY & METABOLISM Endocrine journal Pub Date : 2024-05-03 DOI:10.1507/endocrj.ej23-0680
Yuki Kawashima-Sonoyama, Keisuke Wada, Kei Yamamoto, Masanobu Fujimoto, Noriyuki Namba, Takeshi Taketani
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Abstract

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.

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1 型胰岛素样生长因子受体 (IGF1R) 基因改变患者的临床特征及生长激素治疗对矮身材的影响
IGF-1受体(IGF1R)基因改变导致的矮身材被称为血清IGF1水平升高的小胎龄(SGA)矮身材。其发病率和临床特征仍不清楚。在日本,对于与 IGF1R 基因改变相关的矮身材,目前还没有适应的治疗方法,基因检测也尚未普及。我们对 IGF1R 基因改变导致的身材矮小进行了调查,并利用向日本儿科内分泌学会发放的调查问卷结果分析了 13 例患者的临床数据。其中四例由染色体 15q26.3 缺失引起,八例由 IGF1R 基因杂合致病变异引起。与病理变异引起的病例(-2.71 ± 0.15 SD)相比,染色体缺失病例的生长障碍程度更严重(-4.5 ± 0.43 SD),并伴有神经发育迟缓。然而,病理变异引起的病例缺乏显著特征。12例病例中只有3例的血清IGF1值超过+2 SD,另外3例低于0 SD。四名患者出生时不符合 SGA 标准。六名患者因 SGA 矮小身材接受了 GH 治疗,治疗期间生长速度有所改善,且无任何副作用或血清 IGF1 水平升高。GH 治疗后 IGF1 水平升高(超过 +2 SD)应视为可疑发现。由于缺乏明显特征,该病症可能存在未确诊病例。建议推广基因检测和针对该病症的 GH 临床试验。
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来源期刊
Endocrine journal
Endocrine journal 医学-内分泌学与代谢
CiteScore
4.30
自引率
5.00%
发文量
224
审稿时长
1.5 months
期刊介绍: Endocrine Journal is an open access, peer-reviewed online journal with a long history. This journal publishes peer-reviewed research articles in multifaceted fields of basic, translational and clinical endocrinology. Endocrine Journal provides a chance to exchange your ideas, concepts and scientific observations in any area of recent endocrinology. Manuscripts may be submitted as Original Articles, Notes, Rapid Communications or Review Articles. We have a rapid reviewing and editorial decision system and pay a special attention to our quick, truly scientific and frequently-citable publication. Please go through the link for author guideline.
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