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Endocrines, Volume 3, Issue 4
December 2022 - 20 articles
Cover Story: Growth hormone deficiency (GHD) results from inadequate growth hormone secretion from the anterior pituitary gland and can be congenital or acquired later in life. Familial cases of GHD have been linked to mutations in the GH1 gene as well as mutations in several pituitary transcription factors. Clinical presentation varies depending on the age at presentation, severity of the deficiency, and presence of additional pituitary hormone deficiencies. Diagnosis based on phenotype, auxology, and hormone levels alone can be challenging, and some patients require provocative testing. Treatment involves recombinant human growth hormone (rhGH) replacement therapy. Genetic testing, although not currently routine, will likely play a greater role in the future diagnosis and treatment of GHD. View this paper
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Endocrines - ISSN 2673-396X