Clinical Scorecard: Associations Between Karyotype and Phenotype in Turner Syndrome: A Retrospective Cohort Analysis Across Multiple Centers

At a Glance

Key Highlights

• 44.2% of patients had classical monosomies, 18.6% were mosaic, and 37.2% had structural X-chromosome abnormalities.
• Significant increase in height SDS observed with GH treatment, particularly in the first year.
• Spontaneous menarche occurred in 4.3% of 45, X individuals compared to 50% of mosaic and 45.5% of structural cases.
• Autoimmune hypothyroidism was more common in individuals with structural X-chromosome abnormalities (46.9%).
• No detectable association between karyotype and one-year GH response.

Guideline-Based Recommendations

Diagnosis

• Early diagnosis is essential for optimal management of Turner syndrome.

Management

• Growth hormone therapy is recommended to improve height outcomes.

Monitoring & Follow-up

• Regular monitoring of growth and associated comorbidities is necessary.

Risks

• Patients with structural X-chromosome abnormalities have a higher risk of autoimmune hypothyroidism.

Patient & Prescribing Data

86 patients diagnosed with Turner syndrome.

GH treatment started at a mean age of 8.7 years, with significant height improvements noted.

Clinical Best Practices

• Establish clear links between karyotype and phenotype to inform patient management.
• Provide multidisciplinary care to address the multisystem comorbidities of Turner syndrome.

Related Resources & Content

• STROBE framework