Endocrine Aspects of Duchenne Muscular Dystrophy

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management

“…The goals of endocrine care are to monitor growth and development, identify and diagnose hormone deficiencies, provide endocrine hormone replacement therapy when indicated, and prevent a life-threatening adrenal crisis. A few relevant expert-opinion papers and reviews have been published, 94–96 but data are scarce on the safety and efficacy of growth hormone and testosterone therapy in individuals with DMD. The care considerations that follow are based on evidence and experience derived from use of these therapies in other diseases, with modifications for use in DMD (figure 4).…”

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels?

“…There still is a lack of consensus as to the dose regimen that will consistently achieve optimal vitamin D levels 4 15 30–32. Our data from a mostly corticosteroid-treated cohort of 4–17 year olds with DMD do not support giving smaller doses of vitamin D (200–800 IU) to younger children but suggest that a 3-month replenishment regimen of daily cholecalciferol 6000 IU and maintenance regimen of 1000–1500 IU/day appear to be effective in achieving optimal vitamin D levels without resulting in toxic levels.…”

“…The balance between risk and benefit on the use of corticosteroids in DMD remains a delicate one; the benefits of corticosteroid on functional abilities and respiratory function, and on reducing the need for scoliosis surgery are clear; but the osteoporotic adverse effect of prolonged corticosteroid treatment on the growing skeleton remains a major concern 4 5. Long-term steroid use may exacerbate the already-compromised bone health of boys with DMD by increasing urinary calcium loss, interfering with vitamin D metabolism and impairing the activity of bone-building osteoblasts 6–10…”

Short stature and pubertal delay in Duchenne muscular dystrophy

“…When considering the aetiology of delayed puberty in DMD, chronic high-dose CS are the most likely culprit. The exact mechanism is unclear, but it is thought that CS cause pubertal delay by inhibiting regulation of the hypothalamic–pituitary axis with associated hypogonadotropic hypogonadism 14. Although chronic disease can also contribute to pubertal delay, boys with DMD who are not on CS therapy tend to progress through puberty appropriately.…”