Clinical profile of patients of turner syndrome (TS) with karyotype-phenotype corelation from a tertiary care hospital in Eastern Uttar Pradesh (UP), India

Abstract

The present study was done to study the clinical profile and karyotype-phenotype corelation of turner syndrome patients in eastern UP, India. The present study was a retrospective observational study conducted from January 2018 to December 2020 on newly diagnosed TS patients. All patients were screened for thyroid dysfunction, celiac disease, diabetes mellitus (DM), dyslipidaemia, liver dysfunction, hearing loss, cardiovascular anomalies and renal anomalies. Data was tabulated in Microsoft excel sheet and averages and means were calculated. Fischer exact test was used to assess the corelation of karyotype with clinical phenotypic features. Total 16 patients were diagnosed with TS and 37.5% were classic 45 XO, 18.5% were mosaic 45X/46XX and rest 43.75% were of rarer TS variants. One patient had mosaicism for X chromosome with reciprocal autosomal translocation- 45X, t(12,20)(q24.1p13), 46X, t(12,20)(q24.1p13) *marker karyotype which is the first case reported so far. The average age of presentations was 16.8years ± 3.4years (range 8 to 23 years). One patient with karyotype 46,X, del(Xq22-28) had DM with negative anti-GAD antibodies and one patient with karyotype 46XX/46,X+marker had systemic lupus erythematosus (SLE). No significant karyotype and phenotype corelation was found in our study. We report rare association of SLE with TS and a novel karyotype in TS involving mosaicism for X with autosomal translocation t(12,20). No significant karyotype-phenotype corelation was found in our study. More focused studies are needed to study the genes responsible for various manifestations in TS, pathogenic mechanisms of DM and SLE in TS and the effect of autosomal translocations in TS phenotype.