Emotional-psychological concerns of Turner’s patients regarding social discrimination

Introduction Turner syndrome characterized by total/partial and/or homogeneous/mosaic X chromosome monosomy is associated with various physical health concerns, including facial dysmorphism, short stature, infertility, and other organ defects such as heart, kidney, bone, skin, … well variable degrees of cognitive impairments. Besides, social skills, communication relationships are usually disordered. Objectives The aim this study was to report challenges particularly related discrimination regarding Methods A retrospective analysis clinic data karyotypes were carried out for the patients diagnosed among who consulted at our genetic counselling medical University Sfax, during last two decades. Cytogenetic using conventional methods RHG banding least 20 metaphases 3 each patient. Social recorded patient pre-cytogenetic consultation oriented questioning. Results We identified 23 cases referred a cytogenetic diagnosis monsomy X. karyotyping indicated primary or secondary amenorrhea, female infertility recurrent pregnancy losses. Homogeneous in 13% cases, whereas mosaic forms without structural X/Y abnormalities more frequent (82%). mean age twenty years. When 45,X population predominant one (56,5%), dysmorphism amenorrhea constant. In forms, clinical traits insignificant. Discrimination based on appearance, intellectual disability, failure conceive three types revealed study. Parents also concerned psychological level. They fact their emotional distress face stressful experiences children they encountered schools. Conclusions lead depression, low self-esteem anxiety. Disclosure Interest None Declared