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

## TL;DR

This study finds that boys with Duchenne muscular dystrophy on glucocorticoids often face bone fractures, short stature, and delayed puberty, with radiographs being more effective than densitometry for detecting osteoporosis.

## Contribution

The study highlights the importance of lateral spine radiographs over densitometry for detecting osteoporosis in DMD patients.

## Key findings

- Vertebral fractures were present in 50% of boys with DMD.
- Short stature affected 74% of boys, linked to glucocorticoid treatment duration and dose.
- Lateral spine radiographs were more effective than densitometry in identifying osteoporosis.

## Abstract

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.

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.

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.

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.

The online version contains supplementary material available at 10.1007/s40618-025-02699-x.

Vertebral fractures, short stature, and delayed puberty are common in DMD treated by glucocorticoids.

Lateral spine radiograph is an irreplaceable tool for the detection of vertebral fractures, i.e., osteoporosis.

Among all endocrinological complications, fractures are of utmost concern in boys with DMD.

Patient questionnaire survey helps to identify patient needs and improve health care.

The online version contains supplementary material available at 10.1007/s40618-025-02699-x.