Literature DB >> 7735377

A case of Laron syndrome diagnosed in Slovenia.

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.

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Year:  1994        PMID: 7735377     DOI: 10.1515/jpem.1994.7.4.365

Source DB:  PubMed          Journal:  J Pediatr Endocrinol


  2 in total

1.  Laron's syndrome in two siblings.

Authors:  Partha Pratim Chakraborty; Asish Kumar Basu; Sanjay Kumar Mandal; Dipanjan Bandyopadhyay
Journal:  Indian J Pediatr       Date:  2007-09       Impact factor: 1.967

2.  Role of the GH-IGF1 axis on the hypothalamus-pituitary-testicular axis function: lessons from Laron syndrome.

Authors:  Rossella Cannarella; Andrea Crafa; Sandro La Vignera; Rosita A Condorelli; Aldo E Calogero
Journal:  Endocr Connect       Date:  2021-08-25       Impact factor: 3.335

  2 in total

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