Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India

Abstract

Objective

To describe clinical features in Indian girls with Turner syndrome along with the phenotype-karyotype correlation.

Methods

103 girls with Turner syndrome were divided into karyotype-groups: Classic (45X), 45,X/46,XX mosaics, isochromosomeXq (46,X,iXq and 45,X/46,X,iXq mosaics), 45,X/46,XYmosaics and structural defects, and analyzed for phenotypic differences.

Results

Majority (44.1%) had classic karyotype followed by isochromosome-Xq (26.5%). Classic Turner syndrome had higher prevalence of most skeletal and cutaneous stigmata, cubitus valgus (68.3%) and multiple nevi (68.2%) being the commonest. Bicuspid aortic valve was most common in 45,X/46,XX mosaics (5/15, 33.3%), and aortic coarctation in classic TS (3/42, 7.2%). Congenital renal anomalies occurred mostly in classic TS (6/42,14.3%). Overt hypothyroidism, conductive deafness and recurrent otitis media were commonest in isochromosomes (P<0.03). 45,X/46,XY mosaics had highest IQ (P<0.005).

Conclusion

We report some novel associations of karyotype with non-endocrine parameters in Turner syndrome. In resource-limited settings, underlying karyotype may help prioritize screening investigations in girls with Turner syndrome.

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Acknowledgements

Dr Dinesh Munian, Assistant Professor, IPGME&R, Kolkata and Dr Ajanta Halder, Professor, Department of Genetics, Vivekananda Institute of Medical Sciences, Kolkata for their opinion on karyotypes of the patients. Dr Pradip Mukhopadhyay for his support with the statistical analysis.

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Corresponding author

Correspondence to Satinath Mukhopadhyay.

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Ethics clearance

Institutional ethics committee of IPGME&R, Kolkata; No. IPGME&R/IEC/2017/098, dated February 16, 2017.

Contributors

SM: acquisition of data, analysis of raw data with interpretation and formulating the initial draft; RB: contributed to data collection, analysis and revising the draft; SC: contributed to the concept and design of the project and critical analysis of the data and draft; SM: was chiefly involved in data analysis, revising the data and draft critically for important intellectual content. All authors approved the final version of the manuscript.

Funding

None

Competing interest

None stated.

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Mondal, S., Bhattacharjee, R., Chowdhury, S. et al. Karyotype-Phenotype Correlation in Turner Syndrome at a Single Center in Eastern India. Indian Pediatr 58, 34–37 (2021). https://doi.org/10.1007/s13312-021-2093-x

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Keywords

  • Congenital anomalies
  • Karyotype
  • Skeletal stigmata
  • Turner syndrome