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Horm Res Paediatr. 2019 Sep 12:1-14. doi: 10.1159/000502231. [Epub ahead of print]

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective.

Author information

1
Disciplina de Endocrinologia, Departamento de Medicina Interna, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro, Rio de Janeiro, Brazil, paulosolberg@yahoo.com.
2
Institute of Endocrinology and Diabetes, The University of Sydney, Sydney, New South Wales, Australia.
3
Division of Endocrinology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
4
Endocrine Laboratory, Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
5
Neuroendocrine Unit, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
6
Department of Pediatrics, Federal University of Parana, Curitiba, Brazil.
7
Paediatric Endocrinology, Genetics, and Metabolism, Virtus Medical Group and The University of Hong Kong, Hong Kong SAR, China.
8
Department of Endocrinology, Perth Children's Hospital, Child and Adolescent Health Service, Perth, Washington, Australia.
9
Division of Paediatrics, School of Medicine, University of Western Australia, Perth, Washington, Australia.
10
The Centre for Child Health Research, Telethon Kids Institute, University of Western Australia, Perth, Washington, Australia.
11
Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
12
Leonard Davis School of Gerontology, University of Southern California, Los Angeles, California, USA.
13
Division of Endocrinology, Children's National Health System, Washington, District of Columbia, USA.
14
Endocrine and Diabetes Service, CHU Sainte-Justine and University of Montreal, Montreal, Québec, Canada.
15
Endocrinology, Genetics, and Metabolism, Beijing Diabetes Center for Children and Adolescents, Medical Genetics Department, Beijing Children's Hospital, Beijing, China.
16
Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
17
Department of Medicine, Stanford University School of Medicine and VA Palo Alto Health Care System, Palo Alto, California, USA.
18
Liggins Institute, University of Auckland, Auckland, New Zealand.
19
Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
20
Unidade de Endocrinologia Genética (LIM25), Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
21
Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
22
Service d'Endocrinologie et des Maladies de la Reproduction, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Paris, France.
23
Hirabai Cowasji Jehangir Medical Research Institute (HCJMRI), Jehangir Hospital, Pune, India.
24
Edison Biotechnology Institute and Department of Biomedical Sciences, HCOM Ohio University Athens, Athens, Ohio, USA.
25
Institute of Clinical Science, Pediatrics, Umeå University, Umeå, Sweden.
26
Unidade de Endocrinologia Pediátrica, Area da Mulher, Criança e Adolescente, Centro Hospitalar Universitário de Lisboa Central-Hospital de Dona Estefânia, Lisbon, Portugal.
27
Department of Pediatrics, Tongji Hospital, Tongji Medical Colleage, Huazhong University of Science and Technology, Wuhan, China.
28
Division of Endocrinology, Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota, USA.
29
Division of Pediatric Endocrinology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.
30
Explorations Fonctionnelles Endocriniennes, AP-HP Hôpital Trousseau, Centre de Recherche Saint Antoine, INSERM, Sorbonne Université, Paris, France.
31
Department of Pediatrics, Robert Wood Johnson Medical School, Child Health Institute of New Jersey-Rutgers University, New Brunswick, New Jersey, USA.
32
University Children´s Hospital, Tübingen, Germany.
33
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA.
34
Oregon Health and Science University, Portland, Oregon, USA.
35
NYU Winthrop Hospital, Mineola, New York, USA.
36
Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
37
Pediatric Endocrinology Division, Children's Hospital, University of Bonn, Bonn, Germany.

Abstract

The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.

KEYWORDS:

Growth; Growth hormone; Guideline; Pediatrics; Treatment

PMID:
31514194
DOI:
10.1159/000502231
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