Growth Hormone Disorders and Their Related Diseases: From Pathophysiology to Therapeutic Approaches

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Endocrinology and Metabolism Research".

Deadline for manuscript submissions: 28 February 2026 | Viewed by 466

Special Issue Editor


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Guest Editor
Department of Pediatrics, Ospedale A. Perrino, 72100 Brindisi, Italy
Interests: growth; growth hormone; growth hormone therapy; precocious puberty; pediatric endocrinology; pediatric infectious diseases; delayed puberty; hypothyroidism; bone development; growth hormone deficiency

Special Issue Information

Dear Colleagues,

Growth hormone plays a pivotal role in postnatal growth, body composition regulation, metabolism, and various physiological processes. Disorders of GH secretion or action, including GH deficiency, GH insensitivity, and excess GH production, are associated with significant clinical consequences in both pediatric and adult populations. Furthermore, a range of syndromic and acquired conditions, including Turner syndrome, Noonan syndrome, chronic systemic diseases, and brain tumors, can involve alterations in the GH/IGF-1 axis, influencing diagnostic and therapeutic strategies.

We are pleased to invite you to contribute to this Special Issue, “Growth Hormone Disorders and Their Related Diseases: From Pathophysiology to Therapeutic Approaches”, which aims to provide a comprehensive overview of the latest advancements in the field of GH-related disorders.

This Special Issue aims to bring together original research articles and high-quality reviews that explore the full spectrum of GH-related disorders.

We welcome submissions that cover a variety of aspects related to GH, from basic pathophysiological mechanisms to clinical interventions. The ultimate goal is to improve the understanding, diagnosis, and treatment of conditions associated with GH dysregulation.

In this Special Issue, original research articles and reviews are welcome.

Research areas may include (but are not limited to) the following topics:

  • Molecular mechanisms and genetic basis of GH deficiency and GH resistance.
  • Diagnostic tools and biomarkers in GH disorders.
  • GH therapy: efficacy, safety, and long-term outcomes.
  • Syndromic disorders involving the GH/IGF-1 axis (e.g., Turner, Noonan, and Prader–Willi syndromes).
  • GH-related growth disturbances in chronic diseases.
  • Advances in long-acting GH preparations and innovative therapeutic strategies.

We look forward to receiving your contributions to this Special Issue.

Dr. Giorgio Sodero
Guest Editor

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Keywords

  • growth
  • growth hormone deficiency
  • GH
  • IGF-1
  • pediatric endocrinology

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Published Papers (1 paper)

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Review

23 pages, 365 KiB  
Review
Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies
by Federica Arzilli, Giulia De Fortuna, Ignazio Cammisa, Luca Vagnozzi, Giorgio Sodero, Donato Rigante and Clelia Cipolla
Biomedicines 2025, 13(8), 1937; https://doi.org/10.3390/biomedicines13081937 - 8 Aug 2025
Viewed by 336
Abstract
Background: Recent advances in genetic research have significantly expanded our understanding of the molecular bases of growth hormone deficiency (GHD), and numerous genes have been identified as impacting final stature through isolated or combined abnormalities of growth hormone (GH), GH insensitivity, and [...] Read more.
Background: Recent advances in genetic research have significantly expanded our understanding of the molecular bases of growth hormone deficiency (GHD), and numerous genes have been identified as impacting final stature through isolated or combined abnormalities of growth hormone (GH), GH insensitivity, and insulin growth factor-1 (IGF-I) resistance. Objective: This review summarizes the current knowledge on the genetic causes of GHD in the context of pediatric short stature, emphasizing the role of next-generation sequencing technologies in real-life clinical practice and the potential impact of genetic diagnosis over therapeutic decisions regarding GH replacement therapy. Materials and methods: Articles from PubMed up to April 2025 dealing with GHD were retrieved and analyzed, focusing on genes influencing the GH pathway and stunted growth, with focused attention on relevant molecular and clinical studies. Results: Our analysis, besides cataloguing well-established and novel contributors to growth failure among genes associated with the GH–IGF1 axis, also emphasizes the crucial role of genetic testing and strategies that should be used to maximize the likelihood of identifying a specific genetic etiology, such as prioritizing genetic tests when a monogenic cause is strongly suspected or when there are peculiar clinical features that could be linked to specific genetic conditions. Conclusions: We have highlighted the most recent genetic etiologies of short stature related to GHD, providing an updated framework that is expected to be helpful in the diagnostic and therapeutic management of individuals with mutations related to the GH-IGF1 axis. Full article
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