Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions
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.
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Authors: Meilan Marianne Rutter, Janet L. Crane, Funmbi Babalola, Robert W. Benjamin, Carol Lam, Laura C. McAdam, Stefan Nicolau, Anne Marie Sbrocchi, Mena T. Scavina, Julia Sorbara, Alexandra H. Ahmet, Susan D. Apkon, Chiara Arpaia, Tommaso Aversa, Shipra Bansal, Luca Bello, Diana Xerxes Bharucha-Goebel, Sabrina Corbetta, Natascia Di Iorgi, Ryan M. Farrell, Alberto Ferlin, Danilo Fintini, Mélissa Fiscaletti, Rana Halloun, Maria-Elena Lautatzis, Hugh J. McMillan, Nadia Merchant, Patrick Moeschen, Nat Nasomyont, Maria Ochoa Molina, Chiara Panicucci, Nora E. Renthal, Luisa DE SANCTIS, Jaclyn G. Tamaroff, Cuixia Tian, Aravindhan Veerapandiyan, Leanne Marie Ward, David R. Weber, Sze Choong Wong, Ilaria Zito, Claire Louise Wood
Institutions: University of Padua, University of Colorado Denver, Johns Hopkins University, University of Arkansas for Medical Sciences, Children's Hospital of Eastern Ontario, Western University, Université de Montréal, The Ohio State University, Nationwide Children's Hospital, Cincinnati Children's Hospital Medical Center, Children's Hospital of Philadelphia, McGill University Health Centre, University of Toronto, University of Glasgow, University of Ottawa, Great Ormond Street Hospital, Hospital for Sick Children, McGill University, University of Manitoba, The University of Texas Southwestern Medical Center, University of Turin, Newcastle University, Duke Medical Center, University of Milan, University of Genoa, Boston Children's Hospital, Vanderbilt University Medical Center, Università Cattolica del Sacro Cuore, Children's Hospital Colorado, Agostino Gemelli University Polyclinic, University of Cincinnati, Rainbow Babies & Children's Hospital, Istituto Giannina Gaslini, Royal Hospital for Children, Ospedale Regina Margherita, Bambino Gesù Children's Hospital, University of Messina, Clínica Alemana, Great North Children's Hospital, IRCCS Istituto Auxologico Italiano, Parent Project Muscular Dystrophy