Journal Article Review Ahead of print
PubMed: 42857968 DOI: 10.1177/22143602261486896
Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions.
J Neuromuscul Dis
Authors: Meilan M Rutter, Janet L Crane, Funmbi Babalola, Robert W Benjamin, Carol Lam, Laura McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena Scavina, Julia Sorbara, Alexandra Ahmet, Susan Apkon, Chiara Arpaia, Tommaso Aversa, Shipra Bansal, Luca Bello, Diana X Bharucha-Goebel, Sabrina Corbetta, Natascia Di Iorgi, Ryan Farrell, Alberto Ferlin, Danilo Fintini, Melissa Fiscaletti, Rana Halloun, Maria-Elena Lautatzis, Hugh J McMillan, Nadia Merchant, Patrick Moeschen, Nat Nasomyont, Maria Fernanda Ochoa Molina, Chiara Panicucci, Nora E Renthal, Luisa De Sanctis, Jaclyn Tamaroff, Cuixia Tian, Aravindhan Veerapandiyan, Leanne M Ward, David R Weber, Sze Choong Wong, Ilaria Zito, Claire L Wood
Affiliations
- Division of Diabetes and Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
- Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
- Department of Pediatrics, Division of Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
- Department of Orthopaedic Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
- Department of Pediatrics, Division of Endocrine, Children's Hospital, London Health Sciences Centre, University of Western Ontario, London, ON, Canada.
- Division of Pediatric Endocrinology, Duke University Medical Center, Durham, NC, USA.
- Division of Endocrinology, The Hospital for Sick Children, Toronto, ON, Canada.
- Department of Pediatrics, University of Toronto, Toronto, ON, Canada.
- Department of Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, ON, Canada.
- Center for Gene Therapy, Nationwide Children's Hospital, Columbus, OH, USA.
- Department of Pediatrics, The Ohio State University, Columbus, OH, USA.
- Division of Pediatric Endocrinology and Metabolism, Montreal Children's Hospital, McGill University Health Center, Montreal, QC, Canada.
- Parent Project Muscular Dystrophy (PPMD), Washington, DC, USA.
- Department of Pediatrics, Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
- Department of Physical Medicine and Rehabilitation, Children's Hospital Colorado and Anschutz University of Colorado School of Medicine, Aurora, CO, USA.
- Centro Clinico NeMO, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
- Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
- Department of Human Pathology of Adulthood and Childhood, Pediatric Unit, "G. Martino" University Hospital, University of Messina, Messina, Italy.
- Department of Pediatrics, Division of Endocrinology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
- Department of Neurosciences, DNS, University of Padova, Padova, Italy.
- Bone Metabolic Diseases and Diabetes Unit, Istituto Auxologico Italiano IRCCS, Milan, Italy.
- Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan, Italy.
- Department of Pediatrics, Pediatric Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
- Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
- Division of Pediatric Endocrinology, University Hospitals Cleveland Medical Center, Rainbow Babies and Children's Hospital, Cleveland, OH, USA.
- Department of Medicine, University of Padova, Padova, Italy.
- Department of Systems Medicine, University Hospital of Padova, Padova, Italy.
- Endocrinology and Diabetology Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
- Division of Pediatric Endocrinology, Department of Pediatrics, Sainte-Justine University Hospital, Université de Montréal, Montréal, QC, Canada.
- The Ottawa Pediatric Rare Bone Disease Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
- Department of Pediatrics and Child Health, Children's Hospital of Manitoba, University of Manitoba, Winnipeg, MB, Canada.
- Department of Pediatrics, Division of Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.
- Department of Pediatrics, Division of Pediatric Endocrinology, University of Texas Southwestern Medical Center, Dallas, TX, USA.
- Department of Pediatrics, Pediatric Endocrinology Unit, ClÃnica Alemana de Santiago, Santiago, Chile.
- Center of Translational and Experimental Myology, IRCCS Giannina Gaslini Institute, Genoa, Italy.
- Department of Pediatrics, Division of Endocrinology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
- Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy.
- Department of Public Health and Pediatric Sciences, University of Turin, Turin, Italy.
- Department of Pediatrics, Division of Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, TN, USA.
- Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
- Department of Pediatrics, Division of Neurology, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
- Division of Pediatric Endocrinology and Diabetes, The Perelman School of Medicine at the University of Pennsylvania, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
- Bone, Endocrine, Nutrition Research Group in Glasgow, Human Nutrition, University of Glasgow, Glasgow, UK.
- Department of Pediatric Endocrinology, Royal Hospital for Children, Glasgow, UK.
- Parent Project APS, Rome, Italy.
- Department of Paediatric Endocrinology, Royal Victoria Infirmary, Great North Children's Hospital, Newcastle upon Tyne, UK.
- Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Abstract
Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading to inclusion in the 2018 Care Considerations, these issues remain prevalent and concerning, and gaps in care persist. The Growth and Puberty Working Group of the OPTIMIZE DMD Consortium, an international multidisciplinary group including endocrinology and neuromuscular specialists with DMD expertise, conducted a literature review and surveyed clinicians to inform updated clinical guidance on growth and puberty. This report is based on evidence where available, plus expert consensus, and thereby provides revised guidance on the investigation and management of growth and pubertal delay, as well as hypogonadism beyond the pubertal years, among individuals with DMD. It also addresses new topics subsequent to the 2018 Care Considerations, including: 1) the dissociative glucocorticoid vamorolone and its impact on growth, and 2) gonadal function in older adolescents and young adults. With the current lack of long-term data on growth and puberty outcomes, prevailing themes underscore the importance of person- and family-centered care with informed shared decision-making aligned with individualized goals plus interdisciplinary team communication. This report also highlights specific areas in these domains in need of research. Through ongoing collaborations within the OPTIMIZE DMD Consortium, growth and puberty care continues to evolve and will inform and advance research to improve the health and quality of life of individuals with DMD.
MeSH
Glucocorticoids, Hypogonadism, Fertility, Growth, Muscular Dystrophies, Puberty, Muscular Dystrophy, Duchenne, Testosterone, Neuromuscular Diseases, Research, Steroids