Three decades of turner`s syndrome–An experience from a South Indian genetic center

摘要

Background: Turner's syndrome (TS) arising from partial or complete X chromo somal monosomy is the most commo n genetic disorder in females. In South Asian countries like India diagnosis and care o f patients with TS is still in the developing stage. Hence this study was undertaken to review details of patients with TS, diagnosed in the D ivision of Human Genetics (DHG) of o ur centre. Objectives: To stud y the clinical features and karyotype of patients with turners syndro me. Method: It is a retrospective study of patients with turners syndrome who were karyotyp ed over 30yrs (1978-2008) in DHG in over hospital. Result: In this retrospective audit, details of 89 patients with Turner's syndro me were analysed. The most commo n age group of presentation was 11-15 years and the most frequently observed genetic defect was 45, X followed by 46XX/45 X. Some patients were diagnosed after the age of 20 years. Conclusion: This study brings to light the lack of efficacy in diagno sing and referring patients with TS at a younger age, when therapies for short stature and sexual infantilism are available. In addition systemic and metabolic abnormalities can be detected and treated at the earliest. It is important to increase the awareness of this condition among pediatricians and general practitioners