title: A case of Laron syndrome diagnosed in Slovenia.
abstract: 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, identical to those in growth hormone deficiency (GHD). Laboratory tests showed hypoglycemia, markedly elevated plasma hGH, low serum insulin-like growth factor-1 (IGF-1) with no rise after exogenous hGH, and low serum growth hormone binding protein (GHBP). A sister of the maternal grandfather is short (145 cm) and was found to have below normal serum GHBP, findings compatible with heterozygocity for this disorder.
authors.affiliation: Department of Paediatrics, University Medical Centre, Ljubljana, Slovenia, Israel.
authors.forename: C
authors.initials: C
authors.lastname: Krzisnik
authors.forename: A
authors.initials: A
authors.lastname: Silbergeld
authors.forename: Z
authors.initials: Z
authors.lastname: Laron
mesh_terms: D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics / Q000378:metabolism; D006128:Growth; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000172:deficiency*; D008297:Male
chemical_list: D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone