Monitoring and maintaining bone health in patients with Turner syndrome

ABSTRACT

Introduction

Subjects affected with Turner Syndrome (TS) suffer low bone mineral density and high risk of fracture from a young age. Estrogen deficiency is considered the main risk factor but other factors, such as intrinsic bone abnormalities, enhanced osteoclastogenesis, vitamin D deficiency and other comorbidities may contribute to the exalted bone fragility.

Areas covered

The authors performed a literature search in PubMed and EMBASE, using selected key words. They focused their search on pathogenetic mechanisms of osteoporosis in TS and updated the diagnosis, prevention and therapeutic interventions.

Expert opinion

Bone health is a concern in subjects with TS, and strategies to prevent osteoporosis and fractures should be considered from childhood. Advice on how to live a healthy lifestyle, including physical activity and correct nutrition, should be given during childhood in order to prevent bone impairment later in life. The screening for vitamin D deficiency should be performed between the ages of 9 and 11, and every 2–3 years thereafter. Early initiation of estrogen replacement therapy (ERT) between 11–12 years of age, prompt titration to the adult dose after 2 years, and long-term follow-up to guarantee compliance with ERT, are the key points of osteoporosis prevention in women with TS.

KEYWORDS:

• Turner syndrome
• bone mineral density
• osteoporosis
• fractures
• hypogonadism
• estrogen replacement therapy
• RANKL
• FSH
• vitamin D
• rhGH therapy

Article highlights

• Turner syndrome subjects are predisposed to develop osteopenia/osteoporosis and fractures.

• Primary hypogonadism, intrinsic bone abnormalities, enhanced osteoclastogenesis, calcium and vitamin D deficiency, and comorbidities such as celiac disease and diabetes are the main risk factors.

• Prevention strategies and screening programs for osteoporosis should be started during childhood.

• Estrogen replacement therapy (ERT) is the primary method of preserving bone health, as well as a healthy lifestyle, including physical activity and an adequate intake of calcium and vitamin D.

• New drugs belonging to the monoclonal antibody family, such as Denosumab and Romosozumab, are very promising therapeutic options in adults, but further studies are required to determine the safety of their potential use on children.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.