In case you missed it, over the past three weeks PPMD’s SVP of Clinical Care, Rachel Schrader was joined by Duchenne endocrine experts and members of the PPMD Adult Advisory Committee (PAAC) to discuss important endocrine-related issues.
We would like to thank our panelists for taking the time to provide invaluable guidance and answer questions from the community in the areas of bone health, delayed puberty, and height & weight. Recordings and key takeaways from all three installments of the series are included below.
Dr. Leanne Ward (University of Ottawa) and Adam Wechsler (PAAC member) presented about bone health issues in Duchenne including osteoporosis and related fractures.
- Adam shared his personal experience with multiple fractures, bisphosphonate therapy, and an episode of Fat Embolism Syndrome (FES) leading to a stay in the ICU.
- Dr. Ward spoke about the incidence of osteoporosis in Duchenne, especially if taking steroids which further impact bone health.
- As in Adam’s case, trauma or injury to bone, most often the femur, can lead to a rare complication known as Fat Embolism Syndrome (FES), which is when fat cells from the bone marrow are released into the blood stream as fat globules and can cause respiratory distress if they enter the lungs. This is a life-threatening emergency, and one should seek medical attention immediately if FES is suspected.
- Bone health evaluation should include mobility status, presence of back pain, fracture history, and bone density imaging including spine x-rays and DEXA scans.
- There are several conservative measures that may optimize bone health including screening for vitamin D or calcium deficiencies, addressing delayed puberty, healthy weight, and preventing falls.
- Pamidronate and Zoledronic Acid are both types of intravenous bisphosphonate therapy that are used to treat osteoporosis in Duchenne, and differ by infusion time, side effects, and frequency of infusion.
Dr. Rob Benjamin (Duke Children’s Hospital) and Austin Leclaire (PAAC member) discussed issues around delayed puberty and testosterone in Duchenne.
- The pituitary gland is located in the brain and is the “hormone control center” of the body, which controls thyroid function, growth, stress response, and is the critical driving center for puberty
- Testosterone has a lot of effects on the body including physical changes (i.e. testicular growth, body hair, acne, body odor, and height and weight changes), mood changes, and improved bone health
- Puberty typically begins in boys between 9-14 years. Late puberty is defined as no testicular enlargement by 14 years of age.
- In Duchenne, steroids “shut off” the pituitary gland from stimulating testosterone and pubertal development even through the late teen years.
- Austin spoke about the implications of delayed puberty on social interactions and emotional health in adolescence, and recommended taking these aspects into consideration when deciding whether to begin testosterone therapy.
- Testosterone therapy may be started at 14 years by “jump starting” with a low dose then evaluating the response after 6 months. If this does not work, more intensive testosterone therapy is considered.
- Typical testosterone therapy may be given via injection (shot) in the muscle or under the skin, or via a topical gel form.
Height & Weight
Dr. Phil Zeitler (Colorado Children’s Hospital) and Colin Werth (PAAC member) discussed issues around height, weight, and use of growth hormone and insulin resistance medications.
- The primary tool your care team uses to track your height and weight are growth charts. It is important to have reliable measurements to accurately follow trends by measuring height while laying down (supine height) or other using other alternate measurements (segmental height or ulnar length).
- The second tool used to track growth is bone (skeletal) age. Bone age shows where in the process of growth a person is and how quickly they are developing.
- We know Duchenne is associated with slower growth and delayed puberty, but a focused endocrine evaluation often includes thyroid tests, growth hormone deficiency testing, and bone age, and all findings may or may not be related to Duchenne.
- Colin shared he was following a typical growth curve until he began steroids at age 9, which lead to him falling off his stature curve to the 10th percentile while he went over the 100th percentile for weight after 2 years.
- Colin also referenced in his teen years, he was on daily growth hormone injections, testosterone therapy and metformin medication for insulin resistance. He also adopted lifestyle changes that allowed him to lose a significant amount of weight, which allowed him to achieve a weight appropriate for his height.
- Dr. Zeitler specified metformin medication can be a helpful tool in addition to lifestyle changes to lose weight, however, its side effects can be unpredictable, and other medications may be more effective in helping people lose weight.
- If both growth hormone deficiency and delayed puberty are found, growth hormone should be started first because testosterone will mature the growth plates and growth will taper off regardless of the growth hormone.