Related Experiment Video
Updated: May 23, 2025
Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy
Published on: January 12, 2019
Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
Giorgio Sodero1,2, Clelia Cipolla1, Donato Rigante1,3
1Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Insights
Pubertal induction therapy in Duchenne muscular dystrophy (DMD) shows potential short-term benefits, including improved quality of life and bone health, with no reported adverse effects in pediatric patients. Further research is needed to confirm long-term efficacy.
Area of Science:
- Pediatric Endocrinology
- Neuromuscular Disorders
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is a genetic disorder affecting 1 in 5,000 males.
- Glucocorticoid therapy, standard for DMD, can cause variable pubertal development.
- Some DMD patients require pubertal induction for adequate development.
Purpose of the Study:
- To assess the short-term and long-term benefits of pubertal induction in DMD patients.
- To analyze existing medical literature on this therapeutic approach.
Main Methods:
- A scoping review of the medical literature was performed.
- Analysis focused on studies reporting clinical data from pediatric DMD patients undergoing pubertal induction.
- PubMed was utilized as the primary literature source.
Main Results:
- Six articles reported on 58 pediatric DMD patients (ages 12-17.7) on glucocorticoids.
- Pubertal induction was successful in all patients, with no reported secondary effects.
- Three studies indicated improved quality of life, and four showed benefits for bone health.
Conclusions:
- Limited evidence suggests testosterone therapy in DMD patients offers efficacy and psychosocial benefits.
- The optimal timing and method for pubertal induction in DMD remain subjects of debate.
- Further research with larger cohorts is warranted to solidify findings.
Objectives:
We conducted a scoping review and analyzed the medical literature on PubMed to assess any potential short-term and long-term benefits of pubertal induction in patients with Duchenne muscular dystrophy (DMD).
Content:
We identified six articles from our research cumulatively reporting clinical data from 58 pediatric patients with DMD, of age between 12 and 17.7 years. All of them were on glucocorticoid therapy with variable duration and the longest follow-up of 11.7 years. In all patients, the induction protocol was successful (leading to appearance of secondary sexual characteristics); no secondary effects were reported by any analyzed studies. Three papers reported an objective improvement of patients' quality of life, while in four there was a benefit on the bone profile.
Summary:
DMD is an X-linked recessive genetic disorder that affects approximately 1 in 5,000 live-born male children. Because of early and chronic exposure to glucocorticoids, used as standards of care, pubertal development may be variable. While some boys experience a normal pubertal growth spurt, others have testosterone levels below the normal range for age and require pubertal induction therapy to achieve an adequate testicular volume, development of secondary sexual characteristics, and peak bone mass. When and how to use pubertal induction therapy in pediatric patients with DMD is still object of controversy.
Outlook:
The reported evidence of testosterone therapy in patients with DMD is still limited to small cohort sizes, which suggest efficacy and psychosocial benefits.
