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A 17-year-old girl was diagnosed at age 14 with Turner syndrome and has responded well to exogenous hormone treatment. She is doing well in school but recently has had trouble with sports. She tells the physician that running leads to rapid fatigue, and recently she fell. A maternal great uncle died in his late 20s after spending almost a decade in a wheelchair, but the rest of her family history is unrevealing.
What is the most likely cause of the patient’s difficulties with physical activities?
A. Poor coordination; she should be advised to spend time each day practicing the activities that cause difficulty.
B. Hormone treatment; weight reduction through dietary control should be advised.
C. Poor shoe wear from hallux valgus; orthotics may be beneficial.
D. Primary muscle disorder; the patient’s muscle enzyme levels should be checked.
E. Unstable hips due to short stature; strengthening exercises should be prescribed.
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The answer is D. With an affected male relative on her mother’s side (providing passage through an asymptomatic carrier), this girl may be developing Becker muscular dystrophy (a less severe form than Duchenne and consistent with the later age of onset). Other X-linked neurologic and muscular disorders also might be present in this unusual situation (although recall that many individuals with Turner syndrome are XO/XX mosaics; see Chapter 2). Testing should show features of myopathy. Most teens with Turner syndrome adapt to physical activities well with reasonable joint integrity and coordination (choices A and E) and little likelihood of developing severe hallux valgus (choice C). Weight gain should not develop from carefully monitored hormone replacement (choice B).
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