Avtor/Urednik		Kržišnik, C; Silbergeld, A; Laron, Z
Naslov		A case of Laron syndrome diagnosed in Slovenia
Tip		članek
Vir		J Pediatr Endocrinol
Vol. in št.		Letnik 7, št. 4
Leto izdaje		1994
Obseg		str. 365-9
Jezik		eng
Abstrakt		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 characteristics 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.
Deskriptorji		DWARFISM INSULIN-LIKE GROWTH FACTOR I SOMATOTROPIN HYPOGLYCEMIA CHILD