Cytogenetic and Clinical Profile of Turner Syndrome: A Tertiary Care Center Study in Central India

Authors: Dr. Manisha B Sinha, Renu Verma

DOI: 10.18231/j.ijogr.10395.1760512497

Keywords: Turner syndrome, Genetics, Mosaic, Hypothyroidism

Abstract: Background: Turner syndrome (TS) is a monosomy of X or partial deletion of X with other normal. Wordwide incidence of TS is 1 in 2500. Objectives: This study has been planned to evaluate the incidence and course of Turner syndrome patients in a tertiary care center. Methods: Patients with TS who present to the OBG and pediatrics department of a tertiary care center are advised to undergo karyotyping. Results: Sixteen patients suspected of having a TS karyotype were referred for a Karyotype from Jan 2023 to Oct 2024. Eight out of sixteen patients had a turner Karyotype. The age of presentation was 20 years. The most common karyotype was 45, and XO was found in 50% of cases. Conclusion: Turner cases can be trisomyX (mosaic) along with monosomy X. Early identification of these Turner syndromes is very important. These are the counsel about their lifestyle and their reproductive health