6397 Corelation of genotypic and phenotypic features in turners syndrome and also an evaluation of psychosocial problems in these children

Objectives To assess the phenotypic and genotypic features of each child with Turner To compare their Genotypic pattern with their phenotype and incidence in western studies. To give Psychosocial support to them to alleviate their problems. Methods A Hospital based descriptive study conducted on 36 patients in Government Medical College, Kozhikode, Pediatric Endocrine Clinic in 2017 July to 2019 December Participants aged from 0 to 18 years with Karyotyping positive for Turners Syndrome. Genotypic and phenotypic features were assessed with physical features, investigations and with support from departments like Cardiology, Ophthalmology, Audiology and Child Guidance Clinic for learning disorder and psychology. These incidence are compared with western studies. Data are collected from the patient by semistructured profoma, detailed history taking, physical examination and laboratory tests according to the standard methods. Results 36 patients were included in the study Consanguinity history was noted in 6. 58% of them had a low birth weight 45XO chromosomal pattern was seen in majority of subjects (19) and Mosacisim in 9 of them while 3 had Ring chromosome Short stature and delayed puberty are the commonest problems in our children like them Growth hormone therapy given for 6 Pubertal induction was started for 21 of them. In the neurocognitive and psychosocial issues faced by these children emotional immaturity (40%-WS) was seen in 28%, nonverbal learning disorder (40%-WS) in 8% and psychological and behavioral problems(25%-WS) in 3%. 19% of them have autoimmune thyroiditis(15–25%-WS) and are on treatment (Thyroxine) with regular follow up. All children were given close follow up with counselling sessions and made to meet each other so they can interact among themselves Conclusion • Out of the 36 children who were studied 45XO and mosacism is the commenst genotypic features noted in our study. Among the phenotypic features short stature, webbed neck, ptosis,high arched palate,nail hypoplasia and delayed puberty was the commonest. Majority of them psychosocial stress and needed help. References Xiaoxiao Cui, Yazhou Cui, Liang Shi, Jing Luan, Xiaoyan Zhou, and Jinxiang Han. A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatment. (https://dx.doi.org/10.5582%2Firdr.2017.01056). Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.