Does Turner syndrome cause arthropathy (joint problems)?

From the Guidelines

Turner syndrome can cause arthropathy, including joint pain, stiffness, and increased risk of osteoarthritis, due to genetic differences affecting connective tissue development and bone structure. Women with Turner syndrome often experience joint issues, particularly in their hands, elbows, and knees, with common symptoms including:

• Joint pain and stiffness
• Increased joint laxity (looseness)
• Higher risk of osteoarthritis
• Scoliosis (curvature of the spine) These joint problems are thought to be related to the genetic differences in Turner syndrome, which can affect connective tissue development and bone structure, as mentioned in the guidelines for managing adults with congenital heart disease 1. The absence or partial absence of one X chromosome may lead to alterations in collagen production and bone density. To manage joint issues, women with Turner syndrome should:

1. Maintain a healthy weight to reduce stress on joints
2. Engage in low-impact exercises like swimming or cycling
3. Consider physical therapy to improve joint strength and flexibility
4. Use over-the-counter pain relievers like ibuprofen or acetaminophen as needed for pain
5. Consult with a rheumatologist or orthopedic specialist for severe or persistent joint problems, as recommended by guidelines for managing complex conditions like Turner syndrome 1. Regular monitoring and early intervention can help prevent or minimize joint complications associated with Turner syndrome.

From the Research

Turner Syndrome and Arthropathy

There is no direct evidence in the provided studies that Turner syndrome causes arthropathy (joint problems). However, the studies do discuss the increased risk of osteoporosis and fractures in individuals with Turner syndrome.

Risk Factors for Osteoporosis

• Inadequately treated primary ovarian insufficiency 2
• Intrinsic bone abnormalities 2
• Vitamin D deficiency 2
• Celiac disease 2
• Inflammatory bowel disease 2
• Hearing problems, which can predispose to falls 2, 3

Bone Health in Turner Syndrome

• Individuals with Turner syndrome have lower bone mineral density and a higher fracture rate than healthy individuals 2, 3, 4
• Estrogen deficiency due to hypogonadism leads to low bone mineral density, resulting in a high prevalence of bone fractures 4
• Estrogen replacement therapy (ERT) can improve bone mineral density in patients with Turner syndrome 4

Assessment of Bone Quality

• Dual-energy X-ray absorptiometry (DXA) has limitations in assessing bone mineral density in individuals with Turner syndrome, as it can underestimate bone density in people with short stature 3, 4
• Peripheral quantitative computed tomography (pQCT) and high-resolution pQCT can be used to evaluate bone quality, including bone geometry and microarchitecture, in Turner syndrome 4