Quality of life of patients with 46,XX and 46,XY disorders of sex development

Amaral Rita Cassia; Inacio Marlene; Brito Vinicius N.; Bachega Tania A. S. S.; Domenice Sorahia; Arnhold Ivo J. P.; Madureira Guiomar; Gomes Larissa; Costa Elaine M. F.; Mendonca Berenice B.

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Quality of life of patients with 46,XX and 46,XY disorders of sex development

机译：患有46，XX和46，XY性发育障碍的患者的生活质量

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Disorders of sex development (DSD) result from abnormalities in the complex process of sex determination and differentiation. An important consideration to guide the assignment of social sex in newborns with ambiguous genitalia is the quality of life (QoL) of these patients in adulthood. The rarity of most DSD conditions makes it difficult to conduct a long-term follow-up of affected patients through adulthood. This review of papers on the QoL of DSD patients evaluated in developing and developed countries by qualitative and quantitative instruments revealed a large spectrum of QoL, ranging from very poor to similar to, or even better than, the normal population. A more adequate QoL was found in patients from tertiary centres, indicating that the medical care of DSD patients should be multidisciplinary and carried out by specialized teams.

机译：在性别确定和分化的复杂过程中，异常导致了性发育障碍（DSD）。指导生殖器歧义的新生儿进行社会性别分配的重要考虑因素是这些患者成年后的生活质量（QoL）。大多数DSD疾病很少见，很难对成年后的患者进行长期随访。这篇关于通过定性和定量手段在发展中国家和发达国家评估的DSD患者QoL的论文的综述显示，QoL的范围很广，从非常贫困到与正常人群相似甚至更好。三级中心患者的QoL值更高，这表明DSD患者的医疗应该是多学科的，并由专门的团队进行。

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《Clinical Endocrinology》 |2015年第2期|共6页
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Amaral Rita Cassia; Inacio Marlene; Brito Vinicius N.; Bachega Tania A. S. S.; Domenice Sorahia; Arnhold Ivo J. P.; Madureira Guiomar; Gomes Larissa; Costa Elaine M. F.; Mendonca Berenice B.;
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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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1. Quality of life of patients with 46,XX and 46,XY disorders of sex development [J] . Amaral Rita Cassia, Inacio Marlene, Brito Vinicius N., Clinical Endocrinology . 2015,第2期

机译：患有46，XX和46，XY性发育障碍的患者的生活质量
2. Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred [J] . CiaccioM., CostanzoM., GuercioG., Hormone research in p?diatrics . 2012,第2期

机译：在NR5A1 / SF-1基因中出现新的杂合突变，导致性发育有46，XY障碍的患者中保持生育能力：受影响亲戚的多个成员中46，XY和46，XX性腺发育不良表型变异的证据
3. CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development [J] . NorlingA., HirschbergA.L., IwarssonE., Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2013,第3期

机译：46，XY和46，XX性腺发育障碍患者的CBX2基因分析
4. effect of processing history on the tensile properties of pore-free high strength impact forged 46xx P/F steel [C] . A.Matuszewski, S.J.Marsch, P.M.Machmeier, International conference on powder metallurgy particulate materials . 1997

机译：加工历史对无孔高强度冲击锻造46xx P / F钢拉伸性能的影响
5. General and device-specific quality of life in arrhythmogenic right ventricular cardiomyopathy patients: The impact of shock and sex [D] . Rhodes, Ashley C. 2015

机译：致心律失常性右室心肌病患者的一般和特定设备的生活质量：休克和性别的影响
6. AB020. What is advance in molecular diagnosis for 46XY and 46XX testicular disorder of sex development? [O] . Vũ Chí Dũng, Nguyễn Ngọc Khánh, Bùi Phương Thảo, 2015

机译：AB020。在46XY和46XX睾丸性发育障碍的分子诊断方面有什么进展？
7. Quality of life of patients with 46,XX and 46,XY disorders of sex development [O] . Rita Cassia Amaral, Marlene Inacio, Vinicius N. Brito, 2014

机译：46名，XX和46患者的生活质量，性发展的XY疾病

Quality of life of patients with 46,XX and 46,XY disorders of sex development

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