Cytogenetic and Clinical Profile of Turner Syndrome: A Tertiary Care Center Study from Central India
Manisha B. Sinha, Renu VermaBackground:
Turner syndrome (TS) is characterized by monosomy of the X chromosome or partial deletion of one X chromosome, with the other X chromosome being normal. Worldwide incidence of TS is 1 in 2500.
Objectives:
This study was planned to evaluate the occurrence and course of TS patients at a tertiary care center. Their cytogenetic profile was evaluated.
Materials and Methods:
Patients with clinical signs and symptoms of TS who presented to the OBG and pediatrics department of a tertiary care center were advised to undergo karyotyping. Thirty patients suspected of having a TS karyotype were referred for karyotyping from January 2023 to December 2025.
Results:
Fifteen out of thirty patients had a Turner Karyotype. The average age of presentation was 20 years. The most common karyotype, 45,XO was found in 40% of cases.
Conclusion:
Turner cases can be trisomy X (mosaic), isochromosome X, and monosomy X. Early identification of TS cases is crucial in the initiation of puberty and maintaining long-term health. Their lifestyle and reproductive health were addressed by this recommendation.