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The choice of sex in newborns with genital ambiguity is challenging. Information concerning the satisfaction of subjects with disorders of sex development from childhood to adulthood is required in order to address sex attribution policies. This study focuses on the methods that enable clinicians to investigate the alignment of phenotypes with gender identity and quality of life in people with disorders of this kind. These methods are presented as tools for studying a cohort of ten subjects with 45,X/46,XY mosaicism examined between 1985 and 2014 in the Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin: five children and five young adults, four reared as females and six as males. Clinical outcome was assessed by means of a clinical scoring system considering height, genital appearance, gonads and pubertal development. The Gender Identity Questionnaire for Children and the World Health Organization Quality of Life assessment were adopted. The four male children strongly identified with their assigned sex: male attribution was satisfactory until pubertal age. In young adults the clinical scores ranged between 55-65% for both genders. In the young male, the reduced sexual activity and the poor body image perception strongly affected his quality of life. The clinical scores of the two young female adults (60% for both) were not balanced with their quality of life scores (87.5% and 68.75% respectively): individual traits and social-familial context should be investigated in order to explain these differences. Clinical and psychosocial assessment in people with disorders of sex development is mandatory in order to plan care procedures; a detailed analysis requires adequate tools. Clinical scoring system, Gender Identity Questionnaire for Children and World Health Organization Quality of Life assessment can be used to investigate the alignment of physical phenotype with gender identity and quality of life

aims genetics

Sex attribution, gender identity and quality of life in disorders of sex development due to 45,X/46,XY mosaicism: methods for clinical and psychosocial assessment