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A case of Laron syndrome diagnosed in Slovenia.
- Source :
-
The Journal of pediatric endocrinology [J Pediatr Endocrinol] 1994 Oct-Dec; Vol. 7 (4), pp. 365-9. - Publication Year :
- 1994
-
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.
Details
- Language :
- English
- Volume :
- 7
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- The Journal of pediatric endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 7735377
- Full Text :
- https://doi.org/10.1515/jpem.1994.7.4.365