To explore associations between karyotype, clinical features, and growth hormone (GH) responses in individuals with Turner syndrome (TS).
Approach:
Study Design: Retrospective observational study of 86 TS patients attending three endocrine centers in Abu Dhabi, UAE.
Data Collection: Clinical and genetic data were retrieved from medical records, and height standard deviation score (SDS) changes were assessed using repeated measures ANOVA.
Key Findings:
Spontaneous menarche occurred in 4.3% of 23 evaluable 45, X individuals compared to 50.0% of 12 mosaic and 45.5% of 22 structural X-chromosome abnormality cases (p=0.002).
Autoimmune hypothyroidism was more common in individuals with structural X-chromosome abnormalities (46.9% of 32) compared to monosomy (13.5% of 37) and mosaic cases (6.2% of 16) (p<0.001).
Interpretation:
Knowledge of karyotype-phenotype associations aids in managing patient and family expectations.
Limitations:
The study is retrospective and may have biases related to data collection.
Molecular-level analyses were not systematically performed.
Conclusion:
Early detection and management of TS are crucial for optimizing growth, pubertal development, and quality of life.
