title: Laron syndrome. First report from Greece.
abstract: 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.
authors.affiliation: Fourth Pediatric Department, Aristotle University of Thessaloniki, Thessaloniki, Greece. galtsin@otenet.gr
authors.forename: Assimina
authors.initials: A
authors.lastname: Galli-Tsinopoulou
authors.forename: Sanda
authors.initials: S
authors.lastname: Nousia-Arvanitakis
authors.forename: Ioannis
authors.initials: I
authors.lastname: Tsinopoulos
authors.forename: Christos
authors.initials: C
authors.lastname: Bechlivanides
authors.forename: Orit
authors.initials: O
authors.lastname: Shevah
authors.forename: Zvi
authors.initials: Z
authors.lastname: Laron