IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients
Authors' conclusion
Haploinsufficiency of IGF1 causes a variable phenotype of prenatal and postnatal growth failure, microcephaly, feeding difficulties, low/low-normal serum IGF-I values in contrast to serum IGFBP-3 in the upper-normal range. Treatment with rhGH increased growth in the first 2 years of treatment, and in 2 patients adult height after treatment was higher than predicted at treatment initiation.
Study context
- Population
- Patients with pathogenic heterozygous IGF1 variants (5 whole or partial gene deletions, 1 frameshift variant), 6 families6 families
- Participants
- 9 patients
- Outcome
- Phenotype and growth response to rhGH
Main finding
As reported in the abstract
- Birth length, mean (SD) (n = 7)
- −1.9 (1.3) SDS
- Height, mean (SD)
- −3.8 (0.6) SDS
- Head circumference, mean (SD)
- −2.5 (0.6) SDS
- Serum IGF-I, mean (SD)
- −1.9 (0.7) SDS
- Serum IGFBP-3, mean (SD) (n = 7)
- 1.1 (0.4) SDS
- GH peak range (n = 4)
- 5-31 μg/L
- Feeding problems in infancy
- 5 patients
- Average height increase after 1 year of recombinant human growth hormone (rhGH)
- 0.8 SDS (range 0.3-1.3 SDS)
- Average height increase after 2 years of rhGH
- 1.3 SDS (range 0.5-2.0 SDS)
- Adult height in 2 patients
- −2.8 and −1.3 SDS
- Adult height vs height predicted before treatment, in the same 2 patients, respectively
- 1.3 and 2.9 SDS taller
Observational data: associations, not effects.
Original publication
IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients. Horm Res Paediatr. Published 28 June 2024. doi:10.
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