Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
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Giorgio Sodero
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Clelia Cipolla
Abstract
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.
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Research ethics: Not applicable.
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Informed consent: Not applicable.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/jpem-2025-0061).
© 2025 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
- Reviews
- Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
- Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
- Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
- Original Articles
- The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
- Characterizing the metabolome of children with growth hormone deficiency
- Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
- Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
- Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
- Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
- Case Reports
- Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
- Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
- Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
Artikel in diesem Heft
- Frontmatter
- Editorial
- Endocrine treatment in Duchenne muscular dystrophy – current practices and future directions
- Reviews
- Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy
- Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia
- Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review
- Original Articles
- The use of bisphosphonate and testosterone in young people with Duchenne muscular dystrophy: an international clinician survey
- Characterizing the metabolome of children with growth hormone deficiency
- Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?
- Comparison of the clinical characteristics of children with Silver–Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
- Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia
- Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis
- Case Reports
- Delayed diagnosis of retroperitoneal paraganglioma in an 8-year-old boy with persistent hypertension: a case report and review of diagnostic challenges in pediatric secondary hypertension
- Pediatric iatrogenic Cushing’s syndrome: a series of seven cases induced by topical corticosteroid use
- Wolcott–Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure – a case report
