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A case of Laron syndrome diagnosed in Slovenia.

Authors :
Krzisnik C
Silbergeld A
Laron Z
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