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cohort of individuals with severe isolated GH deficiency (IGHD) caused by a homozygous (c.57+1G→A) mutation in the GHRH receptor (GHRHR) gene ( GHRHR OMIM n.618157) ( 18 ). Most affected adults have not received GH replacement and exhibit normal lifespan
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) ( Table 1 ). Diagnosis of GHD Children GHD exists on a spectrum from complete (e.g. deficiency of the GH1 gene) to partial. However, most of the testing for GHD in children has been binary of either deficient or sufficient. In children, the
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Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China
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Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China
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HbA1c levels of normal or T2D, respectively. Among them, HbA1c levels of T2D patients were all above 6%. The subjects included 40 men and 16 women, accounting for 71% and 29% of the total respectively. Table 1 shows some basic characteristics of the
Department of Psychology II, University of Lübeck, Lübeck, Germany
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Department of Endocrinology, The Christie, University of Manchester, Manchester, UK
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Department of Psychology II, University of Lübeck, Lübeck, Germany
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Introduction Thyroid hormone receptors (TRs) mediate thyroid hormone action. They can be divided into thyroid hormone receptor alpha (TRα) and thyroid hormone receptor beta (TRβ1 and TRβ2). Mutations in encoding genes ( THRA and THRB ) lead
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
Dutch Growth Research Foundation, Rotterdam, the Netherlands
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Diabeter, National Diabetes Care and Research Centre, Rotterdam, the Netherlands
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Department of Paediatrics, Leiden University Medical Centre, Leiden, the Netherlands
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Academic Centre for Growth, Erasmus University Medical Centre, Rotterdam, the Netherlands
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-Albright syndrome 1 DAX1 gene mutation 1 Toxic thyroid adenoma 1 Kallmann syndrome 1 Prolactinoma 4 Multiple endocrine neoplasia syndrome type 2A 4 Ovotesticular disorder of sex development 1 Childhood