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      Growth hormone receptor sequence changes do not play a role in determining height in children with idiopathic short stature.

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          Abstract

          In children with short stature, in whom growth hormone deficiency has been excluded, the presence of a normal or elevated growth hormone concentration concomitant with low insulin-like growth factor I suggests growth hormone insensitivity (GHI). Previous reports suggest that heterozygous mutations in the growth hormone receptor gene (GHR) may account for about 5% of children with idiopathic short stature (ISS). In the present study we have attempted to determine whether mutations in the GHR explain the short stature and growth retardation in a cohort of children with ISS and characteristics suggesting GHI.

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          Growth hormone insensitivity associated with a STAT5b mutation.

          Vivian Hwa, Caroline K Buckway, J. Heinrich … (2003)
          Article 0 comments Cited 118 times – based on 0 reviews     Review now
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            Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958-2003.

            Zvi Laron (2004)
            Clinical and laboratory investigations starting in 1958 of a group of dwarfed children resembling isolated GH deficiency but who had very high serum levels of GH led to the description of the syndrome of primary GH resistance or insensitivity (Laron syndrome) and subsequently to the discovery of its molecular defects residing in the GH receptor and leading to an inability of IGF-I generation. With the biosynthesis of IGF-I in 1986, therapeutic trials started. Continuously more and more patients are being diagnosed in many parts of the world with a variety of molecular defects. This syndrome proved to be a unique model that enables the study of the consequences of GH receptor defects, the physiopathology of GH-IGF-I disruption, and comparison of the GH-independent IGF-I effects. This review presents the personal experience gained from the study follow-up and treatment of the 60 patients followed up for many years in the Israeli cohort.
            Article 0 comments Cited 86 times – based on 0 reviews     Review now
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              Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

              Nicholas W. Wood, S Meacham, R Hellmiss … (1989)
              Laron-type dwarfism is an autosomal recessive genetic disorder that is characterized by high levels of growth hormone and low levels of insulin-like growth factor I in the circulation. Several lines of evidence suggest that this disease is caused by a defect in the growth hormone receptor. In order to analyze the receptor gene in patients with Laron-type dwarfism and with other growth disorders, we have first determined the gene structure in normal individuals. There are nine exons that encode the receptor and several additional exons in the 5' untranslated region. The coding exons span at least 87 kilobase pairs of chromosome 5. Characterization of the growth hormone receptor gene from nine patients with Laron-type dwarfism shows that two individuals have a deletion of a large portion of the extracellular, hormone binding domain of the receptor gene. Interestingly, this deletion includes nonconsecutive exons, suggesting that an unusual rearrangement may have occurred. Thus, we provide direct evidence that Laron-type dwarfism can result from a defect in the structural gene for the growth hormone receptor.
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                Author and article information

                Journal
                Journal ID (iso-abbrev): Horm. Res.
                Title: Hormone research
                Publisher: S. Karger AG
                ISSN: 0301-0163
                ISSN (Print): 0301-0163
                Publication date (Electronic): 2006
                Volume: 65
                Issue: 4
                Affiliations
                [1 ] Genetic Institute, Ha' Emek Medical Center, Afula, Israel.
                Article
                Publisher Item ID: 92514
                DOI: 10.1159/000092514
                PubMed ID: 16582564
                SO-VID: 807e97ce-3c4a-4de7-93cf-20c44df9ecb6
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