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.