To describe clinical features in Indian girls with Turner syndrome along with the phenotype-karyotype correlation.
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.
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).
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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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.
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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
- Congenital anomalies
- Skeletal stigmata
- Turner syndrome