The phenotype caused by human genetic insulin-like growth factor-I (IGF-I) defects is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. This syndrome is extremely rare and only four cases have been reported. Addition clinical features may include microcephaly and later in life adiposity and insulin resistance. Partial gonadal dysfunction and osteoporosis may also be present. A case of partial IGF-I deficiency has recently been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild and hearing tests were normal. IGF-I deficiency is transmitted as an autosomal recessive trait and is caused by homozygous mutations in the IGF1 gene. Currently these patients can benefit from recombinant IGF-I which is now available for treatment. These observations demonstrate that the integrity of IGF-I signalling is important for normal growth and brain development.
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