ESPE Abstracts

Introduction: Insulin-like growth factor 1 receptor (IGF1R) mutations lead to systemic disturbances in growth due to widespread IGF1R expression throughout the body. IGF1R is expressed by innate and adaptive immune cells, facilitating their development and exerting immunomodulatory roles in the periphery.

Case Report: We detected a novel heterozygous variant c.664 C > T (NM_000875) of IGF1R in a Chinese family with short stature by targeted next-generation sequencing. Although the mutation is a variant of unknown significance, it is highly conserved and was predicted to be harmful by the SNAP and PolyPhen-2 software. The proband received recombinant human growth hormone treatment 0.12~0.15 IU/kg/day for 2 years. During the treatment period, there were no considerable adverse effects during rhGH treatment, his growth velocity was 8cm in the first year and 6.7cm in the second year, with a height gain of 0.93 SDS.

Conclusion: We identified a de novo mutation in human IGF1R related to short stature and expanded the mutation spectrum of IGF1R. In addition, we evaluated the efficacy of IGF1R mutation to recombinant human growth hormone treatment. However, long-term follow-up and more cases are needed to verify the effects of rhGH treatment.