Endocrine Meeting. Toronto. December 1 and 2, 2011

Endocrine issues are deeply personal to every one of us. They represent our masculinity, our femininity. They impact our weight, our height and how we look. As our boys with Duchenne grow and develop into adolescents, they and their parents are faced with these intensely personal and complex issues. The purpose of this meeting was to engage with experts to develop information related to these issues that parents and their sons might use with their physicians to encourage (or insist) upon a referral to an Endocrinologist.

 

Endocrine issues are significant in Duchenne and to date, there is very little information. Parents have expressed concern about small stature, delayed puberty, and bone fragility. Weight and chronic steroid use negatively impacts all of these concerns. Experts in Neurology, Endocrinology, Cardiology, Orthopedics, and Psychology were invited to participate. These specialists were separated into working groups with the goal of developing information sheets for families focused on each area, describing the concern, what monitoring and/or tests might be suggested or recommended, the frequency of those tests, and treatment options that might be considered. 

 

Prior to this meeting, working groups had been established across the four areas:

  • Weight management (Insulin resistance)
  • Bone Health
  • Delayed Puberty
  • Short Stature

 

They were instructed to develop a white paper (draft) for families, providing information and outlining options. This draft white paper would be shared with the group for debate and discussion and would be finalized during the meeting.

 

The format for this meeting included keynote speaker Rick Guidotti, an amazing speaker and professional photographer, who opened the meeting with the question, “What is beauty?” Rick spent his early career photographing supermodels. His life changed when he saw a young girl with Albinism and started thinking about the concept of beauty. Who is beautiful? And by whose standards? Through the lens of his camera, he began to redefine beauty, capturing individuals with rare diseases with the goal of changing medical textbooks with frightening photos of a ‘condition’ to photographs of individuals with a condition, capturing the soul of the person with the condition.   Because Endocrine issues seem to predominate adolescence, we invited Rick to photograph some of our beautiful young men.

 

To keep our eyes on the ball, to understand what is important and relevant to young men with Duchenne, we invited four young men to participate on a panel. We invited each of them to comment on these issues and offer advice to the experts.

 

Quick hits on these areas include:

  • Bone Health – recommendations for tests to include early baseline studies of the spine and cautions and recommendations about bisphosphonate use. Three out of the four members of the panel had experienced a fracture.

 

  • Delayed Puberty – recommendations for tests, intervention and consensus that adolescents with concerns about puberty should be referred to an endocrinologist and that the endocrinologist should speak to the young man in private. All members of the panel suggested delays in puberty caused some anxiety during adolescence.

 

  • Short Stature – boys with Duchenne are shorter than their healthy peers. While the percentage is variable, they fall off the growth curve even before starting a steroid regimen. Chronic steroids negatively impact growth. Experts suggested ‘shorter is better’ in terms of maintaining function and the panel members felt that steroids improved/preserved function and understood the trade-off in terms of short stature. 

 

  • Weight (insulin metabolism) – The issues: steroids increase appetite. Boys with Duchenne are 40% less active then healthy peers. Experts agreed, weight control is critical and recommended nutritional counseling at diagnosis or soon after and definitely before starting steroids. Panel members talked about their conscious effort to manage weight, make healthy choices, and limit the number of calories/day. They agreed that it is really difficult in adolescence, especially at school when it feels like everyone is eating high calorie snacks and drinks. Experts agreed that medicines such as Metformin should be explored as an option, but recommended families be proactive about controlling weight. 

 

36 hours later, information sheets across the four areas are finalized and ready for final editing/formatting and signoff.  We expect to have final sign-off in the next 60 days and then they will be ready for dissemination.

 

PPMD will share these information sheets the minute they are available.

 



Pat Furlong, Founding President, CEO
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Comment by Janine on December 8, 2011 at 11:37am

Rhiannon, My son (age 17) is also gh deficient. We just recently stopped giving him gh this past week. He had been taking daily injections for several years. His bone age is about two years behind. We ended up stopping at the suggestion of his cardiologist. He felt that gh could elevate his heart rate which is on the high side.

Pat, I always hear shorter is better but my big concern is that being shorter makes it more likely the bmi would be higher and there could be issues because of that. Also one of his docs said that the taller boys with dmd seem to have more issues with scoliosis. Kind of a no win, no win situation.   


Staff
Comment by Pat Furlong on December 6, 2011 at 8:58am

Rhiannon,  Many clinics simply do not have access to endocrinologists and some physicians are reluctant to refer to endocrinologists.  Because this is the situation, we  have no idea how many boys may have GH deficiency.   There are case studies in the literature, but there is simply no data.   Same with bone issues.  Some clinics prescribe bisphosphonates but the 'when' and specific bisphosphnate varies from clinic to clinic  We are hopefull this meeting and subsequent publications in endocrine journals will spur thinking, referrals to endocrinologists and interest in studies.  


Staff
Comment by Pat Furlong on December 5, 2011 at 3:55pm

Ofelia,

You are right  Shorter is not necessarily alarming, but it is one of the topic areas covered within the context of Endocrine issues in DMD.    And it is true that some (not all) boys fall off the growth chart before steroids and that steroids further negatively impact height.  We included a panel of 4 young men who discussed a range of issues, to include height.  They all agreed that the short stature was annoying during adolescence.  As adults, their priority is education, career/productivity and quality of life.

I think we are all hopeful that the new generation of 'non-steroid/steroids' in development will provide benefit with far less side effects.

There was no attempt to 'soften' Endocrine issues at this meeting, rather to lay them out on the table, understand what is currently known  and unknown and develop a strategy for moving forward.  The information sheets for families are expected to be used to open the conversation with clinicians, with the goal of including endocrinologists into the inter-disciplinary team.

pat

Comment by Ofelia Marin on December 5, 2011 at 3:19pm

I do know that. However, "shorter" than peers does not mean fall off charts BEFORE steroids. "Shorter" is not necessarily something alarming. The problem I see is when they are significantly short to the level that they are off charts before steroids and this becomes exacerbated with chronic steroid use to the level where they are extremely short and have high BMI. I was just curious if the statement made with them off charts before steroids was really true or the fact that we have no choice beside stroids makes specialists in the field try to minimize that side effect by making it sound "softer". They are short anyway so it shouldn't be a big deal, right? I say, on the contrary, if they are shorter than peers it would be great to have other treatment options that do not stunt their growth even more.


Staff
Comment by Pat Furlong on December 5, 2011 at 2:20pm

Hi Ofelia,

Boys with Duchenne are shorter than their healthy peers.  There is no specific age when they fall off the growth chart.  It is highly variable.  There are a number of publications about short stature and Duchenne, a few are listed her.    During the meeting, this was discussed and I expect we will see additional data in press.

Short stature in Duchenne muscular dystrophy.

Source

Departamento de Biologia, Universidade de São Paulo, Brazil.

Abstract

Growth rate was assessed in 187 boys affected with Duchenne muscular dystrophy (DMD) and bone age in 127 among them. Patients' heights were compared with their normal sibs, with expected stature according to midparents' stature and with normal Brazilian children of comparable age. The results showed that DMD boys have a normal length and weight at birth, but a delayed growth starting during the first years of life with a mean approximate decrease of -6.00 cm according to the expected height of the normal Brazilian population. The proportion of DMD patients with short stature (below the 3rd centile) was similar in younger boys (up to 7 years) to that in the older group (more than 7 years) of affected boys. Bone maturation in DMD boys did not differ from their normal sibs. Weight was also decreased in DMD patients as compared with normal sibs of comparable age.

Acta Paediatr. 1999 Jan;88(1):62-5.

Short stature in Duchenne muscular dystrophy: a study of 34 patients.

Source

Department of Paediatrics, University Children's Hospital, Essen, Germany.

Eur J Pediatr. 1988 Aug;147(6):602-5.

Short stature: a common feature in Duchenne muscular dystrophy.

Source

Department of Paediatrics, University of Zurich, Switzerland.

Abstract

In a retrospective growth evaluation, which included parental height, birth length and a longitudinal analysis of growth and bone maturation, it has been shown that short stature is a common finding in Duchenne mus

Comment by Ofelia Marin on December 5, 2011 at 1:18pm

What age are you reffering to with this statement? None of the parents I talk to have boys off growth charts before steroids. are you talking about starting steroids later, age 7+? It is hard for me to believe that boys not on steroids fall off growth charts before age 5. Also, short term data from that weekend dose steroid trial shows that the boys still grow even on that regimen so allow me to be very skeptical regarding your statement with boys falling off charts BEFORE steroids. My son is actually above average (75th percentile) compared with peers at age 4 (on steroids for 8 months)...very hard to believe that most DMD boys are off charts at his age.

 

"While the percentage is variable, they fall off the growth curve even before starting a steroid regimen. "

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