Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy.
Mehmet Eltan, Hilal Sekizkardeş, Sezin Canbek et al.
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Case in brief
Two boys with short stature and a history of being born small for gestational age underwent clinical exome sequencing, which identified novel heterozygous IGF1R variants. In the 6.3-year-old, IGF1 and IGFBP3 levels were within the reported normal range; recombinant human growth hormone (rhGH) was started at 6.9 years. Over two years, height increased by +0.3 SDS per year, with uneventful follow-up. The second boy, aged 3 years, had frequent respiratory infections, normal pituitary hormone levels, and no evidence of GH deficiency. The abstract reports no treatment outcome for him.
What made this case unusual
The cases illustrate that IGF1R variants may be found in children with short stature despite normal IGF1 levels and without GH deficiency; one variant was inherited from the first boy’s mother.
Diagnostic / clinical pearl
In children born small for gestational age who remain short, consider genetic evaluation for IGF1R variants, including when IGF1 levels are not low and GH deficiency is absent.
Why it matters
The authors note that identifying a genetic cause may support more precise diagnosis and reduce unnecessary testing. In the treated patient, the modest height response and elevated IGF1 during therapy underscore the need to balance dose and growth response.