Caring for Gender Diverse Youth With Duchenne Muscular Dystrophy: A Multisite Case Series

Area of Science:

• Neuromuscular Disorders
• Endocrinology
• Adolescent Medicine
• Gender-Affirming Care

Background:

• Duchenne muscular dystrophy (DMD) is a progressive neuromuscular condition requiring multidisciplinary care.
• Endocrine management for DMD often involves testosterone for pubertal induction, complicated by chronic glucocorticoid use.
• Gender identity and gender-affirming care in individuals with DMD are underdescribed.

Purpose of the Study:

• To describe the experiences and care of transgender and gender diverse (TGD) individuals with DMD.
• To identify challenges and outcomes associated with gender-affirming care in this population.

Main Methods:

• A multi-institutional, retrospective case series was conducted across the US, Canada, and UK.
• Data were collected on TGD individuals with DMD, including quantitative and qualitative provider narratives.
• Care approaches, barriers, and psychosocial outcomes were analyzed.

Main Results:

• Ten TGD individuals with DMD were identified, with gender identity disclosure typically in late adolescence/early adulthood.
• Half experienced distress with testosterone therapy; most received mental health support and pursued gender-affirming medical therapy.
• Providers navigated complex decisions balancing gender goals with DMD risks; social affirmation correlated with improved well-being.

Conclusions:

• Delayed gender identity disclosure and complex hormonal decision-making are key issues for TGD individuals with DMD.
• Coordinated, affirming, interdisciplinary care is crucial for addressing psychosocial well-being.
• Comprehensive neuromuscular care must integrate physical and mental health for improving survival in DMD.