Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities

Turner syndrome (TS) is a genetic disorder characterized by X chromosome abnormalities in females. It presents with various clinical features, including short stature and cardiovascular anomalies. Limited awareness and diagnostic facilities contribute to the underdiagnosis of TS in India. The current study aims to explore genotype-phenotype associations with clinical characteristics and cardiovascular abnormalities in TS patients in India.

A cross-sectional study involving 40 TS patients underwent clinical assessments and karyotyping. Data on demographics, anthropometry, Turner stigmata, cardiovascular evaluation, neurocognitive assessment and biochemical parameters were collected. The statistical analysis was conducted utilizing Statistical Package for Social Sciences (SPSS) version 27.0.

Monosomy 45, X (55%) was the most prevalent genotype, with notable differences in age at diagnosis and height standard deviation score among genotypes. Thirty-five percent (35%) of participants had cardiovascular abnormalities, with a higher prevalence in the monosomy group. Lower IQ scores and increased thyroid autoimmunity were associated with specific genotypes. Additionally, a greater occurrence of skeletal and cutaneous stigmata, including cubitus valgus and multiple nevi, was observed in the monosomy group.

The study underscores the significance of genotype-phenotype associations in TS, emphasizing personalized management strategies. Early detection using sophisticated technologies like MRI, comprehensive assessments and assisted personalized management strategies to individual genetic profiles may improve cardiovascular and overall health outcomes in Turner syndrome patients.