Mediå Line Merete, Fauske Lena, Sigurdardottir Solrun, Feragen Kristin J Billaud, Heggeli Charlotte, Wæhre Anne
Women and Children's Division, Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.
Department of Interdisciplinary Health Sciences, Institute of Health and Society, University of Oslo, Oslo, Norway.
Health Psychol Behav Med. 2022 Jul 22;10(1):579-595. doi: 10.1080/21642850.2022.2102018. eCollection 2022.
Differences of sex development (DSD) are a group of congenital conditions that involve variations in sex chromosomes, genes, external and/or internal genitalia, hormones, and secondary sex characteristics. The present study sought to highlight the everyday challenges faced by adults with DSD as well as to understand how issues such as disclosure, information sharing, and stigma affect their daily life.
We applied an interpretative phenomenological study design to explore the first-person perspectives. Semi-structured qualitative interviews of 15 adults aged 30-70 years living in Norway with five different DSD conditions (Turner syndrome, Klinefelter syndrome, congenital adrenal hyperplasia, Mayer-Rokitansky-Küster-Hauser syndrome and hypospadias) were analyzed using reflexive thematic analysis.
Living with DSD, indicated doing a balancing act between hiding and/or exposing what participants perceived differed from others bodies. Communication regarding sensitive topics proved to be important. The participants were doing invisible work to manage the balance between concealing and revealing their feeling of differentness, a work effort that was not necessarily perceivable to others but still affected everyday life of the participants. Furthermore, the participants' experiences of disclosure changed over time, as those who were diagnosed during childhood found that disclosure became easier with advancing age. However, being diagnosed as an adult seemed to increase the feeling of difference and complicate disclosure.
Individuals with DSD should receive adequate information and have someone to practice disclosure towards, which could possibly strengthen the psychosocial aspects of living with their condition. The results emphasize the need to help individuals with DSD achieve a balance between disclosure and self-protection, overcome stigma, and determine when and how information about their DSD should be provided to others.
性发育差异（DSD）是一组先天性疾病，涉及性染色体、基因、外部和/或内部生殖器、激素以及第二性征的变异。本研究旨在突出患有DSD的成年人所面临的日常挑战，并了解诸如披露、信息共享和污名化等问题如何影响他们的日常生活。
我们采用解释性现象学研究设计来探索第一人称视角。对15名年龄在30至70岁之间、居住在挪威、患有五种不同DSD病症（特纳综合征、克兰费尔特综合征、先天性肾上腺皮质增生症、迈耶-罗基坦斯基-库斯特-豪泽综合征和尿道下裂）的成年人进行了半结构化定性访谈，并使用反思性主题分析法进行分析。
患有DSD的人表示，要在隐藏和/或暴露他们认为与他人身体不同之处之间进行权衡。事实证明，就敏感话题进行沟通很重要。参与者在进行无形的努力，以管理隐藏和揭示自己与众不同感觉之间的平衡，这种努力他人不一定能察觉到，但仍会影响参与者的日常生活。此外，参与者披露信息的经历会随时间而变化，因为那些在童年时期被诊断出的人发现，随着年龄的增长，披露变得更容易。然而，成年后被诊断似乎会增加与众不同的感觉，并使披露变得复杂。
患有DSD的个体应获得充分的信息，并有人可以向其练习披露信息，这可能会加强与他们病情共存的心理社会方面。研究结果强调需要帮助患有DSD的个体在披露和自我保护之间取得平衡，克服污名化，并确定何时以及如何向他人提供有关其DSD的信息。
