Sunetra Mondal1, Rana Bhattacharjee1, Subhankar Chowdhury1, Satinath Mukhopadhyay2. 1. Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India. 2. Department of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India. Correspondence to: Dr Satinath Mukhopadhyay, Department of Endocrinology and Metabolism, IPGME and R and SSKM Hospital, Kolkata, West Bengal 700 020, India. satinath.mukhopadhyay@gmail.com.
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). CONCLUSIONS: 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.
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). CONCLUSIONS: 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.