Endocrine Abstracts

Background: Laron syndrome (LS) is an autosomal recessive disease characterized by severe postnatal growth failure, short stature, normal or elevated serum GH, and low levels of IGF-I and IGF binding protein-3 (IGFBP-3). The disorder is caused by dysfunction of the growth hormone receptor resulted from mutations in GHR gene.Objective: Purpose of this research was to describe mutations on GHR gene in five children with Laron syndrome.<p class="abstext...

Background: Isolated growth hormone deficiency (IGHD) is a condition associated with the growth failure of children due to deficient growth hormone (GH) production and action. IGHD occurs in 1/4000 to 1/10 000 births and the most of cases are sporadic and idiopathic. Between 5 and 30% show familial pattern, suggesting a genetic etiology of disease. Mutations on GH-1 gene lead to growth failure and cause IGHD disease.Objective: Purpose of our research was...