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      Isolated Growth Hormone Deficiency due to GH1 Gene Deletion: Central Nervous System Hypertension during Growth Hormone Treatment

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          Background: We report the case of a patient with an uncommon association of isolated growth hormone deficiency (IGHD) due to GH1 gene deletion and Chiari malformation type I. The patient presented with intracranial hypertension during recombinant human GH replacement therapy. Methods: GH deficiency (GHD) was diagnosed based on auxiological data and standard biochemical tests. Molecular analysis of the GH1 gene was performed using polymerase chain reaction amplification and SmaI enzyme restriction. The central nervous system (CNS) was evaluated by computed tomography (CT) and magnetic resonance imaging (MRI). Results: Molecular analysis showed that IGHD was due to homozygotic deletion of the 6.7-kb GH1 gene. After 28 months of GH treatment, CT and MRI scans showed enlargement of the third and lateral ventricles but a normal fourth ventricle, herniation of the cerebellar tonsils by the foramen magnum, presence of dysplastic cerebellar tonsils involving the medulla oblongata, absence of the cisterna magna and compression of the cerebellar tonsils and spinal cord by the posterior arch of the atlas. The patient underwent endoscopic third ventriculostomy, which resulted in complete symptom relief. Conclusions: This case illustrates the importance of CNS evaluation, including detailed examination of the posterior fossa, in patients with GHD.

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          Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

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            Cellular pattern of type-I insulin-like growth factor receptor gene expression during maturation of the rat brain: Comparison with insulin-like growth factors I and II

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              The molecular genetics of growth hormone deficiency.

              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.

                Author and article information

                Horm Res Paediatr
                Hormone Research in Paediatrics
                S. Karger AG
                February 2007
                15 February 2007
                : 67
                : Suppl 1
                : 102-105
                Departments of aPediatrics, bSurgery and Anatomy and cInternal Medicine, School of Medicine of Ribeirao Preto, University of São Paulo, Brazil
                97562 Horm Res 2007;67:102–105
                © 2007 S. Karger AG, Basel

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                Page count
                Figures: 4, References: 11, Pages: 4
                Pediatric Clinical Case Sessions


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