Turner syndrome and osteoporosis

Area of Science:

• Endocrinology
• Genetics
• Bone Metabolism

Background:

• Turner syndrome is a frequent sex chromosomal anomaly involving X chromosome loss.
• Affected females exhibit skeletal abnormalities, short stature, and primary ovarian insufficiency.
• Osteoporosis is a significant concern, with lower bone mineral density and higher fracture rates.

Purpose of the Study:

• To review the mechanisms of osteoporosis in Turner syndrome.
• To summarize clinical manifestations of osteoporosis.
• To provide management recommendations for osteoporosis.

Main Methods:

• This study is a narrative review.
• Literature search on underlying mechanisms, clinical features, and management of osteoporosis in Turner syndrome.

Main Results:

• Key risk factors for osteoporosis include inadequately treated primary ovarian insufficiency and intrinsic bone abnormalities.
• Comorbidities like vitamin D deficiency, celiac disease, and inflammatory bowel disease exacerbate risk.
• Hearing problems may increase fall risk, contributing to fractures.

Conclusions:

• Early hormone replacement therapy (HRT) initiated at 11-13 years is crucial for osteoporosis prevention.
• Prompt dose titration and long-term HRT compliance are essential management strategies.
• Comprehensive management addresses hormonal, skeletal, and comorbidity-related risks.