Laron-type
dwarfism is an autosomal recessive disorder caused by deletions or mutations of the
growth hormone receptor gene. It is characterized by high circulating levels of
growth hormone (GH) and low levels of
insulin-like growth factor I (
IGF-I). Patients are refractory to both endogenous and exogenous GH, and present severe growth retardation and
obesity.
Therapy with recombinant human
insulin-like growth factor-I (rhIGF-I) accelerates linear growth. We describe a 2-year old girl with
Laron syndrome, who presented with postnatal growth failure and hypoglycaemic
seizures. Her evaluation disclosed high GH values during a
glucagon test (peak GH value 170 ng/ml) and very low
IGF I value (0.1 ng/ml) with no rise following GH administration. The growth velocity improved considerably with the administration of
IGF I. Molecular analysis showed a heterozygous mutation on exon 4 of the GH receptor gene, inherited from the mother, a rather puzzling finding considering the clinical findings in mother and infant. This case constitutes the first report of
Laron syndrome from Greece.