Endocrinological complications of Duchenne muscular dystrophy and their subjective burden: observational study evaluating growth, puberty, and bone health

Abstract Purpose Duchenne muscular dystrophy (DMD) and its treatment by glucocorticoids are associated with secondary osteoporosis, short stature, and delayed puberty. We aimed at exploring the prevalence and subjective burden of these endocrinological complications after the implementation of recommended care protocols. Methods A prospective cross-sectional medical report review of boys with DMD followed at the largest pediatric neuromuscular reference center. An online questionnaire survey was part of the study. Results We included 35 boys with DMD, aged 5.7–19.7 years, most of them on long-term daily glucocorticoid therapy (91%). Vertebral fractures were present in 50% of boys, short stature in 74%, and pubertal delay in 56% of boys. The glucocorticoid treatment duration and cumulative doses were associated with a higher prevalence of short stature, but not with the presence of vertebral fractures or pubertal delay. Areal bone mineral density assessed by densitometry only poorly identified patients with osteoporosis, compared to clear evidence of vertebral fractures by lateral spine radiograph. The boys were most concerned about the risk of fractures. Those in the pubertal age, however, were troubled also by their childish looks. The boys tolerated the surveillance protocols and treatment of complications very well. Conclusions Vertebral fractures, short stature, and delayed puberty are very frequent among glucocorticoid-treated boys with DMD. Lateral spine radiograph is a crucial means for bone health assessment, with an even larger yield than densitometry. A questionnaire survey identifies patient needs and improves complex health care.