A CASE OF LARON SYNDROME DIAGNOSED IN SLOVENIA

We report the first case of Laron syndrome (LS) diagnosed in Slovenia. The boy, a product of non-consanguineous Slovenian parents of normal height, presented with slow growth and motor development since birth. At age 4 and 6 years, he had all the characteristic signs of LS, ident ical to those in growth hormone deficiency (GHD). Laboratory tests sho wed hypoglycemia, markedly elevated plasma hGH, low serum insulin-like growth factor-1 (IGF-1) with no rise after exogenous hGH, and low ser um growth hormone binding protein (GHBP). A sister of the maternal gra ndfather is short (145 cm) and was found to have below normal serum GH BP, findings compatible with heterozygocity for this disorder.