Abstract 11: Clinical phenotype, prevalence of congenital anomalies and autoimmune conditions in patients with turner syndrome

Introduction: Turner Syndrome (TS) is the most common sex chromosome abnormality of female, occurs in one in 2500 live born females. TS combines characteristic physical features with complete or partial absence of X chromosomes, frequently accompanied by cell mosaicism. Objective: The aim of the study is to describe the clinical phenotype, prevalence of congenital anomalies and autoimmune conditions in patients with turner syndrome. Method: Data was collected from patients presenting in endocrinology OPD at SMS Medical College Jaipur. Of 100 cases the mean age of diagnosis was 9.6 years (range 0-17) years. The most common problem that bring patients to the clinic was short stature (75%), and delayed puberty (25%). There were 24 patients with other congenital abnormalities cardiac defect in 6%, 12% with ear abnormality and remaining with skeletal and eye defect. Significant number 45% had associated autoimmune condition (including T1DM, coeliac disease, hypothyroidism). Conclusion: Most common presentation of turner syndrome is short stature. TS is associated with other congenital abnormalities most common being ear abnormalities and most common autoimmune condition being coeliac disease.