A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.

Abstract

IGF deficiency caused by a homozygous loss-of-function of IGF1 is a very rare cause of growth failure. This paper comments on an original research paper in this issue on a novel patient with this condition, confirming its main clinical features (severe prenatal and postnatal growth failure, severe microcephaly, retrognathia, sensorineural deafness and severe global developmental delay) and adding information about the variability of the growth hormone secretion, IGF1 concentration and insulin sensitivity.