Endocrine Abstracts

Introduction: An overview of a 14-year-old Duchenne muscular dystrophy patient who was subjected to steroid treatment and suffered greatly as a result. This case study illustrates how management effects can occasionally have a negative impact on our bodies via the lens of a patient. This event also shows that what’s important to patients might not always be the same as what’s important to medical professionals.

Case history: This case study features E, who has Duchenne muscular dystrophy, confirmed genetically at the age of 21 months. He was chosen to participate in the For-DMD study when he became 4 years old. According to the experiment, he was randomly allocated to take daily deflazacort (0.9 mg/kg per day). After a few years, it became apparent that E was experiencing a variety of endocrine side effects from using steroids, chief among them being adrenal insufficiency, which was discovered by a very low morning cortisol level. E’s mother consequently completed a series of sessions to ensure she was equipped to provide a steroid injection if required.

Due to prolonged steroid use: E has short stature and decreased bone density indicated by successive DEXA scans, which supported the conclusion that E suffered fractures brought on by osteopenia. The significant back pain and the fact that E’s mother feels depressed and unable to hide it on his bedside when he was in the hospital because she cannot find a parental room to cry alone when E cannot see her were the worst effects on E, in his opinion. Other side effects included delayed puberty. Speaking with E, it was clear how happy he felt when he began displaying some secondary sexual traits in response to testosterone gel therapy. Numerous additional endocrinological problems brought on by steroid use and adrenal insufficiency were also identified and reported. Remarkably, the taste of the pills was among the worst he ever encountered.

Conclusion: E’s continued autonomy and participation in his management strategy are what, in the end, satisfy him.