Wagner Anke, Brucker Sara Yvonne, Ueding Esther, Gröber-Grätz Dagmar, Simoes Elisabeth, Rall Katharina, Kronenthaler Andrea, Schäffeler Norbert, Rieger Monika A
Institute of Occupational and Social Medicine and Health Services Research, University Hospital Tuebingen, Wilhelmstraße 27, 72074, Tübingen, Germany.
Centre of Women's Health, University Hospital Tübingen, Calwerstraße 7, 72076, Tübingen, Germany.
Orphanet J Rare Dis. 2016 Nov 16;11(1):152. doi: 10.1186/s13023-016-0536-6.
In health services research, there is a special emphasis on the transition from adolescence into adulthood. During this transition period, adolescents change from pediatric to adult medical care. This process must be carefully structured, particularly when special medical care is required. Challenges and difficulties become apparent particularly in the case of rare diseases. This is increasingly so when the rare disease affects the adolescence-specific development of patients, such as Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), also known as Müllerian agenesis.
A systematic literature review identified the care requirements of girls and young women with MRKHS, as well as studies of medical care during the adolescent transition period for various other diseases. This investigation was carried out in the years 2012 and 2013, and was updated in 2014/2015. In addition, the reference lists of the identified studies were reviewed.
Nine publications on MRKHS and ten publications on the transition from adolescence to adulthood were included. Medical care requirements and measures were identified for the following areas: diagnosis during adolescence and organization of medical care, reactions to the diagnosis, functional infertility, psychological stress and threat to self-image, contact with others, and dealing with MRKHS coping strategies.
There is still a great demand for research in the area of care during the transition period from adolescence into adulthood, particularly for rare diseases. The recommendations for treating MRKHS patients derived from the literature should be implemented and evaluated with regard to their effectiveness.
在卫生服务研究中，特别强调从青春期到成年期的过渡。在这个过渡阶段，青少年从儿科医疗转向成人医疗。这个过程必须精心安排，特别是在需要特殊医疗护理时。挑战和困难在罕见病的情况下尤为明显。当罕见病影响患者青春期特定的发育时，情况更是如此，例如迈耶-罗基坦斯基-库斯特-豪泽综合征（MRKHS），也称为苗勒氏管发育不全。
通过系统的文献综述确定了患有MRKHS的女孩和年轻女性的护理需求，以及针对其他各种疾病在青少年过渡时期的医疗护理研究。这项调查在2012年和2013年进行，并在2014/2015年更新。此外，还对已确定研究的参考文献列表进行了审查。
纳入了9篇关于MRKHS的出版物和10篇关于从青春期到成年期过渡的出版物。确定了以下方面的医疗护理需求和措施：青春期诊断及医疗护理组织、对诊断的反应、功能性不孕、心理压力和自我形象威胁、与他人接触以及应对MRKHS的应对策略。
在从青春期到成年期的过渡阶段，特别是对于罕见病，护理领域的研究仍然有很大需求。应实施并评估从文献中得出的治疗MRKHS患者的建议的有效性。
