| Literature DB >> 7735377 |
C Krzisnik1, A Silbergeld, Z Laron.
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.Entities:
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Year: 1994 PMID: 7735377 DOI: 10.1515/jpem.1994.7.4.365
Source DB: PubMed Journal: J Pediatr Endocrinol