Lee Peter A, Nordenström Anna, Houk Christopher P, Ahmed S Faisal, Auchus Richard, Baratz Arlene, Baratz Dalke Katharine, Liao Lih-Mei, Lin-Su Karen, Looijenga Leendert H J, Mazur Tom, Meyer-Bahlburg Heino F L, Mouriquand Pierre, Quigley Charmian A, Sandberg David E, Vilain Eric, Witchel Selma
Department of Pediatrics, Penn State College of Medicine, Hershey, Pa., USA.
Horm Res Paediatr. 2016;85(3):158-80. doi: 10.1159/000442975. Epub 2016 Jan 28.
The goal of this update regarding the diagnosis and care of persons with disorders of sex development (DSDs) is to address changes in the clinical approach since the 2005 Consensus Conference, since knowledge and viewpoints change. An effort was made to include representatives from a broad perspective including support and advocacy groups. The goal of patient care is focused upon the best possible quality of life (QoL). The field of DSD is continuously developing. An update on the clinical evaluation of infants and older individuals with ambiguous genitalia including perceptions regarding male or female assignment is discussed. Topics include biochemical and genetic assessment, the risk of germ cell tumor development, approaches to psychosocial and psychosexual well-being and an update on support groups. Open and on-going communication with patients and parents must involve full disclosure, with the recognition that, while DSD conditions are life-long, enhancement of the best possible outcome improves QoL. The evolution of diagnosis and care continues, while it is still impossible to predict gender development in an individual case with certainty. Such decisions and decisions regarding surgery during infancy that alters external genital anatomy or removes germ cells continue to carry risk.
本次关于性发育障碍(DSD)患者诊断与护理的更新旨在应对自2005年共识会议以来临床方法的变化,因为知识和观点会发生改变。我们努力纳入来自广泛领域的代表,包括支持和倡导团体。患者护理的目标聚焦于尽可能最佳的生活质量(QoL)。DSD领域在不断发展。本文讨论了对生殖器模糊的婴儿及年长个体进行临床评估的最新情况,包括对性别指定为男性或女性的看法。主题包括生化和基因评估、生殖细胞肿瘤发生风险、心理社会和性心理健康的处理方法以及支持团体的最新情况。与患者及家长进行开放且持续的沟通必须做到充分披露信息,同时要认识到,虽然DSD状况是终身的,但尽可能改善最佳结果可提高生活质量。诊断和护理仍在不断演变,而在个别病例中仍无法确切预测性别发育。此类决策以及婴儿期改变外生殖器解剖结构或切除生殖细胞的手术决策仍然存在风险。