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Growth Hormone Insensitivity

  • University of Florida

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Growth hormone insensitivity (GHI) or resistance is the absence of a growth or metabolic response to endogenous GH produced by the liver or to recombinant human (rh) GH administered in physiologic doses. Genetic disorders that result in GHI are rare and include GH receptor deficiency (GHRD, Laron syndrome), as well as mutations affecting genes of signal transducer and activator of transcription 5B (STAT5b), protein tyrosine phosphatase nonreceptor type 11 (PTPN11), acid labile subunit (ALS), insulin-like growth factor-I (IGF-I), the IGF-I receptor, and pappalysin 2 (PAPP-A2). Limited experience with rhIGF-I therapy in GHRD demonstrates restoration of growth that is less than seen with rhGH replacement in GH deficiency, probably due to the absence of direct effects of GH in bone and muscle.

Original languageEnglish
Title of host publicationPediatric Endocrinology
Subtitle of host publicationA Practical Clinical Guide, Fourth Edition
PublisherSpringer Nature
Pages35-72
Number of pages38
ISBN (Electronic)9783031662966
ISBN (Print)9783031662959
DOIs
StatePublished - 1 Jan 2024

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • Acid labile subunit (ALS)
  • GH-binding protein (BP)
  • GHR gene mutation
  • Growth hormone (GH)
  • Insulin-like growth factor-I (IGF-I)
  • Laron syndrome
  • Noonan syndrome
  • Pappalysin 2 (PAPP-A2)
  • Protein tyrosine phosphatase non-receptor type 11 (PTPN11)
  • Receptor (R)
  • Recombinant human IGF-I (rhIGF-I)
  • Serum transducers and activators of transcription 5b (STAT5b)

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