Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GH1) gene have been described in affected individuals. This review focuses primarily on the GH1 mutational spectrum and its unusual features, discusses potential mechanisms of mutagenesis and pathogenesis, and examines the correlation between mutant genotype and clinical phenotype. The characterization of pathological lesions in several other pituitary-expressed genes that are epistatic to GH1 (POU1F1, PROP1 and GHRHR) has identified additional causes of GH deficiency, the molecular genetics of which are also explored.

The molecular genetics of growth hormone deficiency

Secretion of authentic 20-kDa human growth hormone (20K hGH) in Escherichia coli and properties of the purified product.

The full agonistic effect of recombinant 20 kDa human growth hormone (hGH) on CHO cells stably transfected with hGH receptor cDNA

Growth hormone (GH) stimulation tests are considered a prerequisite to clinical trials of recombinant human GH (rhGH) therapy, but the test results may not be predictive of the treatment outcomes with rhGH. We examined the GH stimulation test results as a predictor of the treatment outcome in a cohort of prepubertal subjects in the National Cooperative Growth Study. A standard is proposed in which a diagnosis of GH deficiency is considered appropriate when a patient has significant first-year catch-up growth and that a positive stimulation test result predicts this outcome. With this construct, a traditional interpretation of GH stimulation test results correctly identifies 64% of the rhGH treatment outcomes. The analysis shows an upper limit of diagnostic sensitivity of 82% and a lower limit of specificity of 25% in our study population. The results of our recent studies suggest that the sensitivity and specificity of the current GH stimulation tests are attributable in part to broad intersubject variation in GH clearance, rates of GH elimination, and GH volume of distribution. The combined studies suggest that the use of subject-specific pharmacokinetic parameters will improve the diagnostic interpretation of GH stimulation test results and improve rhGH treatment outcomes. growth hormone stimulation tests, recombinant human growth hormone, pharmacokinetic parameters, maximal stimulated growth hormone concentration.

https://pediatrics.aappublications.org/content/pediatrics/104/Supplement_5/1028.full.pdf

Growth Hormone Stimulation Test Results as Predictors of Recombinant Human Growth Hormone Treatment Outcomes: Preliminary Analysis of the National Cooperative Growth Study Database

Actual measurement of growth hormone (GH) levels in children suspected of having GH deficiency can confirm this diagnosis. However, there currently is no standard for the test. Although there is general agreement that in a short-statured child, a value of

https://pediatrics.aappublications.org/content/pediatrics/104/Supplement_5/1024.full.pdf

Methods in Determining Growth Hormone Concentrations: An Immunofunctional Assay

Progress in designing growth hormone (GH) agonists or antagonists for clinical or agricultural application depends on identification of residues at the hormone-receptor interface. Such residues can be modified with a view to increasing or decreasing the affinity of the hormonereceptor interaction. The earliest studies to be carried out with this aim were enzymatic or chemical modification studies (1, 2) and comparative studies (3-5) on the receptor-binding properties of members of the prolactid G H family and of naturally occurring variants of GH. In the last 5 years, application of site-directed mutagenesis technology has accelerated progress dramatically. The ‘alanine scanning mutagenesis’ studies carried out by Cunningham and Wells (6) are the best known and have had a major impact in this field. Mutagenesis strategies applied by other groups (7-14), however, have complemented these studies and resulted in important extensions of the receptor-interactive domain of GH, enabling the engineering of higher affinity G H analogues or antagonists. The recent elucidation of the threedimensional structure of the receptor-hormone complex by de Vos et al. (15) has assisted in several ways. It has highlighted the role of receptor dimerization and, therefore, will help in the design of G H agonists and antagonists. It has also enabled interpretation of the results of early chemical modification studies and confirmed predictions made on the basis of novel mutagenesis strategies applied by other workers.

The Search for Receptor-Interactive Regions in Growth-Hormone - Historical Perspectives and Novel Strategies

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The Search for Receptor-Interactive Regions in Growth-Hormone - Historical Perspectives and Novel Strategies