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首页> 外文期刊>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
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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

机译：45，X / 46，XY镶嵌症导致的性发展障碍中的性别归因，性别认同和生活质量：临床和社会心理评估方法

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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.
机译：生殖器歧义新生儿的性别选择具有挑战性。为了解决性别归因政策，需要提供有关从童年到成年的性发展障碍受试者的满意度的信息。这项研究的重点是使临床医生能够研究表型与性别认同和生活质量的一致性的方法。这些方法作为研究在1985年至2014年间在都灵里贾纳玛格丽塔儿童医院小儿内分泌科研究的十个受试者具有45，X / 46，XY镶嵌的队列研究的工具：五个孩子和五个成年人，四个被抚养作为女性，六个作为男性。通过临床评分系统评估临床结局，该评分系统考虑了身高，生殖器外观，性腺和青春期发育。通过了《儿童性别认同调查表》和世界卫生组织的生活质量评估。这四个男孩强烈地确定了他们的性别：直到青春期之前，男孩的归因都令人满意。在年轻人中，男女的临床分数在55-65％之间。在年轻男性中，减少的性活动和不良的身体形象感知严重影响了他的生活质量。两名年轻女性成年人的临床得分（两者均为60％）与生活质量得分（分别为87.5％和68.75％）不平衡：应研究个体特征和社会家庭背景以解释这些差异。为了规划护理程序，必须对性发育障碍的人进行临床和社会心理评估;详细的分析需要足够的工具。临床评分系统，《儿童性别认同问卷》和世界卫生组织的生活质量评估可用于调查身体表型与性别认同和生活质量的一致性。

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