Current concepts surrounding bone health and osteoporosis in Turner syndrome

Abstract

Although Turner syndrome is the most common chromosomal disorder in women, a great deal remains to be understood in terms of optimal patient care, particularly as it relates to bone health. These women are known to be at risk for osteoporosis and fracture later in life as a result of a multitude of risk factors. While estrogen replacement and childhood growth hormone treatment are now considered standard of care, little is known of the role of further interventions to prevent and treat osteoporosis in these women. This review aims to highlight the specifics of bone health in Turner syndrome. We explore the bone diagnostic modalities and therapeutic interventions available and their role in the coming years of bone health management in this unique population.

Keywords::

• calcium
• dual x-ray absorptiometry
• estrogen
• growth hormone
• osteoporosis
• Turner syndrome
• vitamin D

Financial & competing interests disclosure

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.

No writing assistance was utilized in the production of this manuscript.

Key issues

• Turner syndrome (TS) patients have a multitude of bone health risk factors in addition to estrogen deficiency.

• Dual x-ray absorptiometry (DXA) remains the diagnostic standard for osteoporosis diagnosis and monitoring in TS.

• Awareness of the limitation of DXA as a result of smaller body size in TS is paramount. Volumetric conversions of DXA-derived bone mineral density results reduce the risk of osteoporosis overdiagnosis in TS.

• Newer imaging modalities with 3D bone assessments may become important bone health monitoring tools in patients with TS.

• Estrogen replacement in TS is standard of care for bone health preservation. Physiological timing of pubertal induction and adequate estrogen replacement until menopausal age is important for the maintenance of bone mass.

• Bone health maintenance with regular weight-bearing physical activity, reduced alcohol intake, smoking cessation and adequate calcium & vitamin D intake is important in TS.

• Treatment of osteoporosis in TS currently mirrors the treatment of postmenopausal osteoporosis as TS-specific trials and guidelines are currently lacking.

Notes