Growth and Growth Disorders

A special issue of Endocrines (ISSN 2673-396X). This special issue belongs to the section "Pediatric Endocrinology and Growth Disorders".

Deadline for manuscript submissions: closed (10 September 2022) | Viewed by 34795

Special Issue Editor


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Guest Editor
Pediatric Endocrinology, Department of Internal Medicine, Faculty of Medical Sciences, State University of Rio de Janeiro (UERJ), Rio de Janeiro 20000-000, RJ, Brazil
Interests: growth and growth disorders; short stature; puberty and disorders of puberty; obesity
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Special Issue Information

Dear Colleagues,

The first reported use of a growth hormone in an individual with a growth hormone deficiency was published in 1958, and for many years since then, the only available growth hormone for the treatment of growth hormone deficiency was obtained from pituitary gland extract. In 1983, with the approaching approval of human recombinant growth hormone for clinical use, Mortimer Lipsett, from the NICHHD, organized an event to address questions related to what to expect when unlimited quantities of growth hormone become available and to address the concerns regarding its appropriate use and possible abuses (Underwood LE. Report of the conference on uses and possible abuses of biosynthetic human growth hormone. N Engl J Med. 1984 Aug 30;311(9):606-8. doi: 10.1056/NEJM198408303110925. PMID: 6379463). The 50 experts’ cumulative ability to foresee future problems was fantastic. Additionally, almost 40 years after the approval of human recombinant growth hormone, several of those questions remain unanswered, and new ones have become important.

Scientific knowledge in the area of growth and growth disorders has advanced tremendously since that first report from 1958; however, we still have many unanswered questions. Many aspects of the diagnosis of growth hormone deficiency are still controversial, as are the benefits (or drawbacks) of different indications of recombinant human growth hormone. With the development of the long-acting growth hormone, new questions have emerged. The development and lowering of costs of different techniques of genetic investigation helped in the understanding of normal growth as well as the causes for several forms of growth disorders.

This Special Issue of Endocrines welcomes perspectives from the past, the present and the future, through review articles, original research studies as well as assays attempting to predict the direction the field of growth and growth disorders might go.

Works reviewing the history of growth research are welcome, as are in-depth reviews of specific aspects of growth and growth disorders. Material presenting new data in the areas of causes, investigation and management of growth disorders are always of significance. Additionally, another venue with interesting potential is assays looking at the future, where we are headed, and what to expect in this field in the near and long-term future.

Dr. Paulo Ferrez Collett-Solberg
Guest Editor

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Keywords

  • growth
  • height
  • idiopathic short stature
  • growth hormone
  • growth hormone deficiency
  • puberty
  • insulin like growth factor-1 (IGF-1)
  • growth plate
  • hypopituitarism

Published Papers (6 papers)

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Research

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8 pages, 1638 KiB  
Communication
Clinical Features of Transient Growth Hormone Deficiency
by Yuki Sakai, Kento Ikegawa, Kazuhiro Shimura and Yukihiro Hasegawa
Endocrines 2023, 4(1), 102-109; https://doi.org/10.3390/endocrines4010009 - 13 Feb 2023
Viewed by 1794
Abstract
Background: Most patients with idiopathic growth hormone deficiency (iGHD) in childhood have normal GH stimulation test results in adulthood. The present study aimed to investigate the characteristics and possible etiology of transient iGHD. Methods: Patients with childhood-onset iGHD who completed their GH treatment [...] Read more.
Background: Most patients with idiopathic growth hormone deficiency (iGHD) in childhood have normal GH stimulation test results in adulthood. The present study aimed to investigate the characteristics and possible etiology of transient iGHD. Methods: Patients with childhood-onset iGHD who completed their GH treatment between March 2010 and March 2021 were retrospectively studied. Patients with a clear history of child abuse or constitutional delay of growth and puberty were excluded. Ten patients with a diagnosis of iGHD based on a decreased growth rate and growth hormone stimulation test findings at the time of onset were included. Retesting demonstrated that these patients had a normal GH level. Results: Five patients had insufficient weight gain (BMI SD score < −1.0 at the start of treatment or a decrease in BMI SD score > 1.0 from one year before treatment to the start of treatment). The other five patients had no remarkable clinical features. One patient had decreased height velocity at the same time as their sibling. Conclusion: Insufficient pre-treatment weight gain or a familial cluster of cases may be related to low GH peaks of GHST, leading to a diagnosis of transient GHD. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)
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11 pages, 271 KiB  
Article
Perceptions of Youth and Parent Decision-Making Roles Regarding Recombinant Human Growth Hormone Treatment
by Ettya R. Fremont, Elizabeth A. Friedrich, Chris Feudtner, Adda Grimberg and Victoria A. Miller
Endocrines 2022, 3(4), 590-600; https://doi.org/10.3390/endocrines3040050 - 6 Oct 2022
Viewed by 1545
Abstract
Recombinant human growth hormone (rhGH) is prescribed to youth with growth hormone deficiency (GHD) to support normal growth and ensure healthy physical development, and to youth without GHD to address height concerns. Perceptions of youth involvement in rhGH treatment decisions have not been [...] Read more.
Recombinant human growth hormone (rhGH) is prescribed to youth with growth hormone deficiency (GHD) to support normal growth and ensure healthy physical development, and to youth without GHD to address height concerns. Perceptions of youth involvement in rhGH treatment decisions have not been explored. This study aimed to examine perceptions of youth and parent roles in decisions around rhGH treatment. Youth (n = 22, 11.5 ± 2.0 years) who had undergone evaluation for short stature and their parents (n = 22) participated in semi-structured interviews after stimulation test results had been received. Interviews revealed the following themes: (1) parent provided youth with support; (2) parent facilitated youth’s decision-making involvement; (3) youth had no role or did not remember their role; and (4) youth did not remember conversations with their parents or providers. Parents facilitated their children’s involvement by sharing information and seeking their opinions. While some participants described youth as having a substantial decision-making role, not all youth felt they were involved, and some youth could not recall conversations about rhGH. Parents can bolster youth involvement by having conversations using developmentally appropriate language, which is critical to youth feeling empowered and developing efficacy over their own care. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)

Review

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12 pages, 815 KiB  
Review
Potential Effects of Oral Isotretinoin on Growth Plate and Height
by Adriane A. Cardoso-Demartini, Cesar Luiz Boguszewski and Margaret C. S. Boguszewski
Endocrines 2023, 4(2), 281-292; https://doi.org/10.3390/endocrines4020023 - 7 Apr 2023
Viewed by 19562
Abstract
Longitudinal growth and puberty are the result of a complex interaction of genetic, hormonal, nutritional, and environmental factors. Acne vulgaris is a chronic disease of the pilosebaceous unit that affects 85% of adolescents worldwide. Isotretinoin is a synthetic vitamin A derivative drug effective [...] Read more.
Longitudinal growth and puberty are the result of a complex interaction of genetic, hormonal, nutritional, and environmental factors. Acne vulgaris is a chronic disease of the pilosebaceous unit that affects 85% of adolescents worldwide. Isotretinoin is a synthetic vitamin A derivative drug effective and is widely employed for the treatment of moderate and severe acne vulgaris. Premature epiphyseal closure has been reported in patients with neuroblastoma treated with high doses of isotretinoin as well as in patients with acne receiving lower doses. Although the mechanisms for these effects are not clear, it has been suggested that isotretinoin may have a negative impact on the GH-IGF-I axis, leading to a reduction in IGF-I and IGFBP3 serum levels. Although many of the isotretinoin adverse effects in pediatric patients are transient, premature epiphyseal closure and bone abnormalities can lead to transient abnormalities and permanent deformities with a negative impact on longitudinal growth and final height. The aim of this study was to review the potential effects of oral isotretinoin on the growth plate and growth during childhood and adolescence. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)
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17 pages, 374 KiB  
Review
Idiopathic Short Stature: What to Expect from Genomic Investigations
by Nathalia Liberatoscioli Menezes Andrade, Laurana Polli Cellin, Raissa Carneiro Rezende, Gabriela Andrade Vasques and Alexander Augusto Lima Jorge
Endocrines 2023, 4(1), 1-17; https://doi.org/10.3390/endocrines4010001 - 9 Jan 2023
Cited by 2 | Viewed by 3451
Abstract
Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having constitutional short stature or idiopathic short stature (ISS). [...] Read more.
Short stature is a common concern for physicians caring for children. In traditional investigations, about 70% of children are healthy, without producing clinical and laboratory findings that justify their growth disorder, being classified as having constitutional short stature or idiopathic short stature (ISS). In such scenarios, the genetic approach has emerged as a great potential method to understand ISS. Over the last 30 years, several genes have been identified as being responsible for isolated short stature, with almost all of them being inherited in an autosomal-dominant pattern. Most of these defects are in genes related to the growth plate, followed by genes related to the growth hormone (GH)–insulin-like growth factor 1 (IGF1) axis and RAS-MAPK pathway. These patients usually do not have a specific phenotype, which hinders the use of a candidate gene approach. Through multigene sequencing analyses, it has been possible to provide an answer for short stature in 10–30% of these cases, with great impacts on treatment and follow-up, allowing the application of the concept of precision medicine in patients with ISS. This review highlights the historic aspects and provides an update on the monogenic causes of idiopathic short stature and suggests what to expect from genomic investigations in this field. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)
9 pages, 268 KiB  
Review
Growth Hormone Deficiency
by Colleen O'Neill, Mariam Gangat and Sally Radovick
Endocrines 2022, 3(4), 736-744; https://doi.org/10.3390/endocrines3040060 - 17 Nov 2022
Cited by 1 | Viewed by 2714
Abstract
Short stature is a common reason for a child to visit the endocrinologist, and can be a variant of normal or secondary to an underlying pathologic cause. Pathologic causes include growth hormone deficiency (GHD), which can be congenital or acquired later. GHD can [...] Read more.
Short stature is a common reason for a child to visit the endocrinologist, and can be a variant of normal or secondary to an underlying pathologic cause. Pathologic causes include growth hormone deficiency (GHD), which can be congenital or acquired later. GHD can be isolated or can occur with other pituitary hormone deficiencies. The diagnosis of GHD requires thorough clinical, biochemical, and radiographic investigations. Genetic testing may also be helpful in some patients. Treatment with recombinant human growth hormone (rhGH) should be initiated as soon as the diagnosis is made and patients should be monitored closely to evaluate response to treatment and for potential adverse effects. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)
9 pages, 1110 KiB  
Review
The Changing Face of Paediatric Human Growth Hormone Therapy
by Martin O. Savage
Endocrines 2022, 3(3), 419-427; https://doi.org/10.3390/endocrines3030033 - 6 Jul 2022
Cited by 1 | Viewed by 5086
Abstract
Human growth hormone (hGH) has been used therapeutically to promote growth in children for over 60 years. Pituitary-extracted hGH has demonstrated positive growth promotion since the early 1960s. In 1985, prion-induced contamination of hGH triggered a global epidemic of Creutzfeldt–Jakob disease that was [...] Read more.
Human growth hormone (hGH) has been used therapeutically to promote growth in children for over 60 years. Pituitary-extracted hGH has demonstrated positive growth promotion since the early 1960s. In 1985, prion-induced contamination of hGH triggered a global epidemic of Creutzfeldt–Jakob disease that was responsible for its discontinuation. Recombinant hGH immediately replaced pituitary hGH and, being available in large amounts, was used and licenced for therapy in GH-deficient children, followed by approval for non-GH deficient disorders such as Turner syndrome, short stature related to birth size small for gestational age, idiopathic short stature, SHOX deficiency, Prader–Willi syndrome and Noonan syndrome. RhGH therapy was refined by the use of growth prediction models; however, unmet needs, such as the variability in response and non-adherence resulted in the development of long-acting rhGH (LArhGH) molecules, which are currently in clinical trials and have shown non-inferiority in comparison with daily rhGH. It is likely that LArhGH will enter clinical practice in 2022 and 2023 and will need to demonstrate safety in terms of immunogenicity, IGF-1 generation, metabolic status and tolerability of potential injection pain and local reactions. Full article
(This article belongs to the Special Issue Growth and Growth Disorders)
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