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Growth Hormone and Human Disease

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 February 2025 | Viewed by 7106

Special Issue Editor


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Guest Editor
Department of Pediatrics, Diabetology, Endocrinology and Nephrology, Medical University of Lodz, Pankiewicz Street 16, 91-738 Lodz, Poland
Interests: growth hormone (GH) deficiency; GH insensitivity; GH therapy; insulin-like growth factors (IGF); IGF binding proteins; intrauterine growth retardation; fetal programming; personalized medicine; artificial neural networks; prediction models
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Special Issue Information

Dear Colleagues,

The main function of the growth hormone (GH) in childhood is to promote linear growth until bone epiphyses are closed, while the metabolic effects of GH are important throughout life. Thus, GH substitution is a standard treatment in children with GH deficiency (GHD) and in adults with severe GHD. The beneficial effects of using GH administrations in some diseases not related to GH deficiency have also been documented and GH therapy has been approved for indications other than GHD. Examples of genetically determined disorders, in which GH therapy is fully approved for growth promotion, include Turner syndrome (TS) and Prader–Willi syndrome (PWS). In the case of PWS, the effects of early GH therapy (not only on metabolism, but also on cognitive and adaptive performance of treated children) are also of huge significance. In recent years, there is increasing interest in the beneficial effects of the GH on the repair of brain damage. It has also been reported that exogenous GH may have beneficial effects in children with the glucocorticoid-induced retardation of bone growth. Other indications for GH therapy are related to poor gonadal function and infertility, e.g., beneficial effects of GH administration during controlled ovarian stimulation have been documented in previously poor-responding or non-responding women. On the other hand, GH excess is related to the increased risk of different cancers and to a variety of other complications, as observed in the patients with gigantism/acromegaly. Molecular mechanisms of GH action, both directly in target tissues and indirectly via growth factors, are being better understood, but still require full explanations.

Researchers are invited to submit their original research or reviews for this Special Issue of the International Journal of Molecular Sciences, entitled “Growth Hormone and Human Disease”, which will cover the topics mentioned above or other issues related to different aspects of GHD, GH therapy, and GH excess.

Dr. Joanna Smyczyńska
Guest Editor

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Published Papers (4 papers)

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Research

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18 pages, 928 KiB  
Article
Transient Isolated, Idiopathic Growth Hormone Deficiency—A Self-Limiting Pediatric Disease with Male Predominance or a Diagnosis Based on Uncertain Criteria? Lesson from 20 Years’ Real-World Experience with Retesting at One Center
by Joanna Smyczyńska, Maciej Hilczer, Urszula Smyczyńska, Andrzej Lewiński and Renata Stawerska
Int. J. Mol. Sci. 2024, 25(11), 5739; https://doi.org/10.3390/ijms25115739 - 24 May 2024
Viewed by 760
Abstract
In the majority of children with growth hormone (GH) deficiency (GHD), normal GH secretion may occur before the attainment of final height. The aim of the study was to assess the incidence of persistent and transient GHD and the effectiveness of recombined human [...] Read more.
In the majority of children with growth hormone (GH) deficiency (GHD), normal GH secretion may occur before the attainment of final height. The aim of the study was to assess the incidence of persistent and transient GHD and the effectiveness of recombined human GH (rhGH) therapy in children with isolated, idiopathic GHD with respect to the moment of therapy withdrawal and according to different diagnostic criteria of GHD. The analysis included 260 patients (173 boys, 87 girls) with isolated, idiopathic GHD who had completed rhGH therapy and who had been reassessed for GH and IGF-1 secretion. The incidence of transient GHD with respect to different pre- and post-treatment criteria was compared together with the assessment of GH therapy effectiveness. The incidence of transient GHD, even with respect to pediatric criteria, was very high. Normal GH secretion occurred before the attainment of near-final height. Application of more restricted criteria decreased the number of children diagnosed with GHD but not the incidence of transient GHD among them. Poor response to GH therapy was observed mainly in the patients with normal IGF-1 before treatment, suggesting that their diagnosis of GHD may have been a false positive. Further efforts should be made to avoid the overdiagnosis GHD and the overtreatment of patients. Full article
(This article belongs to the Special Issue Growth Hormone and Human Disease)
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Review

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24 pages, 969 KiB  
Review
The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature
by Anna Kucharska, Ewelina Witkowska-Sędek, Michał Erazmus, Dorota Artemniak-Wojtowicz, Maria Krajewska and Beata Pyrżak
Int. J. Mol. Sci. 2024, 25(18), 10169; https://doi.org/10.3390/ijms251810169 - 22 Sep 2024
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Abstract
Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader–Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with [...] Read more.
Recombinant human growth hormone therapy (rhGH) has been widely accepted as the safe treatment for short stature in children with such genetic syndromes as Prader–Willi syndrome and Turner or Noonan syndrome. Some patients with short stature and rare genetic syndromes are treated with rhGH as growth hormone-deficient individuals or as children born small for their gestational age. After years of experience with this therapy in syndromic short stature, it has been proved that there are some aspects of long-term rhGH treatment beyond growth promotion, which can justify rhGH use in these individuals. This paper summarizes the data of a literature review of the effects of rhGH treatment beyond growth promotion in selected genetic syndromes. We chose three of the most common syndromes, Prader–Willi, Turner, and Noonan, in which rhGH treatment is indicated, and three rarer syndromes, Silver–Russel, Kabuki, and Duchenne muscular dystrophy, in which rhGH treatment is not widely indicated. Many studies have shown a significant impact of rhGH therapy on body composition, resting energy expenditure, insulin sensitivity, muscle tonus, motor function, and mental and behavioral development. Growth promotion is undoubtedly the primary benefit of rhGH therapy; nevertheless, especially with genetic syndromes, the additional effects should also be considered as important indications for this treatment. Full article
(This article belongs to the Special Issue Growth Hormone and Human Disease)
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14 pages, 781 KiB  
Review
Involvement of Sirtuin 1 in the Growth Hormone/Insulin-like Growth Factor 1 Signal Transduction and Its Impact on Growth Processes in Children
by Anna Fedorczak, Andrzej Lewiński and Renata Stawerska
Int. J. Mol. Sci. 2023, 24(20), 15406; https://doi.org/10.3390/ijms242015406 - 20 Oct 2023
Cited by 4 | Viewed by 2243
Abstract
The regulation of growth processes in children depends on the synthesis of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Insulin-like growth factor 1, which is mainly secreted in the liver in response to GH, is the main peripheral mediator of GH [...] Read more.
The regulation of growth processes in children depends on the synthesis of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Insulin-like growth factor 1, which is mainly secreted in the liver in response to GH, is the main peripheral mediator of GH action. Newly discovered factors regulating GH secretion and its effects are being studied recently. One of them is sirtuin 1 (SIRT1). This NAD+-dependent deacetylase, by modulating the JAK2/STAT pathway, is involved in the transduction of the GH signal in hepatocytes, leading to the synthesis of IGF-1. In addition, it participates in the regulation of the synthesis of GHRH in the hypothalamus and GH in the somatotropic cells. SIRT1 is suggested to be involved in growth plate chondrogenesis and longitudinal bone growth as it has a positive effect on the epiphyseal growth plate. SIRT1 is also implicated in various cellular processes, including metabolism, cell cycle regulation, apoptosis, oxidative stress response, and DNA repair. Thus, its expression varies depending on the different metabolic states. During malnutrition, SIRT1 blocks GH signal transduction in hepatocytes to reduce the IGF-1 secretion and prevent hypoglycemia (i.e., it causes transient GH resistance). In this review, we focused on the influence of SIRT1 on GH signal transduction and the implications that may arise for growth processes in children. Full article
(This article belongs to the Special Issue Growth Hormone and Human Disease)
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14 pages, 352 KiB  
Review
Management of Neonatal Isolated and Combined Growth Hormone Deficiency: Current Status
by Stefano Stagi, Maria Tufano, Nicolò Chiti, Matteo Cerutti, Alessandra Li Pomi, Tommaso Aversa and Malgorzata Wasniewska
Int. J. Mol. Sci. 2023, 24(12), 10114; https://doi.org/10.3390/ijms241210114 - 14 Jun 2023
Cited by 5 | Viewed by 1798
Abstract
Congenital growth hormone deficiency (GHD) is a rare disease caused by disorders affecting the morphogenesis and function of the pituitary gland. It is sometimes found in isolation but is more frequently associated with multiple pituitary hormone deficiency. In some cases, GHD may have [...] Read more.
Congenital growth hormone deficiency (GHD) is a rare disease caused by disorders affecting the morphogenesis and function of the pituitary gland. It is sometimes found in isolation but is more frequently associated with multiple pituitary hormone deficiency. In some cases, GHD may have a genetic basis. The many clinical signs and symptoms include hypoglycaemia, neonatal cholestasis and micropenis. Diagnosis should be made by laboratory analyses of the growth hormone and other pituitary hormones, rather than by cranial imaging with magnetic resonance imaging. When diagnosis is confirmed, hormone replacement should be initiated. Early GH replacement therapy leads to more positive outcomes, including reduced hypoglycaemia, growth recovery, metabolic asset, and neurodevelopmental improvements. Full article
(This article belongs to the Special Issue Growth Hormone and Human Disease)
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