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

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Turner syndrome (TS) is a genetic disorder in females due to X chromosome abnormalities.
• Clinical manifestations vary, including short stature and cardiovascular anomalies.
• Underdiagnosis in India is linked to limited awareness and diagnostic resources.

Purpose of the Study:

• To investigate genotype-phenotype associations in Indian Turner syndrome patients.
• To correlate genetic profiles with clinical characteristics and cardiovascular abnormalities.

Main Methods:

• Cross-sectional study of 40 TS patients.
• Clinical assessments, karyotyping, and data collection on demographics, anthropometry, stigmata, cardiovascular, neurocognitive, and biochemical parameters.
• Statistical analysis using SPSS version 27.0.

Main Results:

• Monosomy 45, X was the most frequent genotype (55%).
• Cardiovascular abnormalities affected 35%, with higher prevalence in the monosomy group.
• Specific genotypes correlated with lower IQ scores, thyroid autoimmunity, and characteristic physical stigmata like cubitus valgus and nevi.

Conclusions:

• Genotype-phenotype correlations are crucial for personalized Turner syndrome management.
• Early detection and comprehensive assessments tailored to genetic profiles can improve patient outcomes.
• Advanced imaging (e.g., MRI) may aid early diagnosis and management.