Culen Caroline, Ertl Diana-Alexandra, Schubert Katharina, Bartha-Doering Lisa, Haeusler Gabriele
University Clinic of Pediatrics and Adolescent MedicineMedical University of Vienna, Vienna, Austria.
University Clinic of Pediatrics and Adolescent MedicineMedical University of Vienna, Vienna, Austria
Endocr Connect. 2017 May;6(4):R39-R51. doi: 10.1530/EC-17-0036. Epub 2017 Mar 23.
Turner syndrome (TS), although considered a rare disease, is the most common sex chromosome abnormality in women, with an incident of 1 in 2500 female births. TS is characterized by distinctive physical features such as short stature, ovarian dysgenesis, an increased risk for heart and renal defects as well as a specific cognitive and psychosocial phenotype. Given the complexity of the condition, patients face manifold difficulties which increase over the lifespan. Furthermore, failures during the transitional phase to adult care result in moderate health outcomes and decreased quality of life. Guidelines on the optimal screening procedures and medical treatment are easy to find. However, recommendations for the treatment of the incriminating psychosocial aspects in TS are scarce. In this work, we first reviewed the literature on the cognitive and psychosocial development of girls with TS compared with normal development, from disclosure to young adulthood, and then introduce a psychosocial approach to counseling and treating patients with TS, including recommendations for age-appropriate psychological diagnostics. With this work, we aim to facilitate the integration of emphasized psychosocial care in state-of-the-art treatment for girls and women with TS.
特纳综合征（TS）虽被视为罕见病，但却是女性中最常见的性染色体异常疾病，在女性出生中的发病率为1/2500。TS具有独特的身体特征，如身材矮小、卵巢发育不全、心脏和肾脏缺陷风险增加以及特定的认知和社会心理表型。鉴于病情的复杂性，患者面临诸多困难，且这些困难会随着寿命增长而增加。此外，向成人护理过渡阶段的失败会导致健康状况一般和生活质量下降。关于最佳筛查程序和医学治疗的指南很容易找到。然而，针对TS中相关社会心理问题治疗的建议却很少。在这项工作中，我们首先回顾了与正常发育相比，患有TS的女孩从信息披露到青年期的认知和社会心理发展的文献，然后介绍一种针对TS患者咨询和治疗的社会心理方法，包括适合不同年龄段心理诊断的建议。通过这项工作，我们旨在促进将重点突出的社会心理护理纳入针对患有TS的女孩和女性的最新治疗中。
