Table 1 Additional information about the inclusion process

• Identification Phase

To identify appropriate studies, a systematic literature search was carried out using the PubMed database (online portal of the National Library of Medicine) from June 2012 through March 2013. The literature search was updated in 2014/2015 to include newer publications. The search was carried out for clinical picture, target group, treatment management, and outcome using keywords and keyword combinations defined by the project team. The search was performed with a broad scope, also including findings from publications on transition management for other relevant diseases when deriving recommendations. This was necessary, since few studies on transition for rare diseases could be found in 2012 and 2013.

Two search strategies were applied:

  - Search strategy 1 comprised a search for publications generally related to the transition phase. The following keywords were used: “young girl AND puberty AND disease course“ and “girl AND transition“

  - Search strategy 2 comprised searching for publications dealing with the disease MRKHS in the context of transition. The following catchwords were used: “parents AND MRKH“, “female AND adolescent AND gential malformation AND MRKH”, “MRKH AND transition“, “rokitans* AND organisation“, “female AND adolscent AND gential malformation AND transition“, “female AND rokitans* AND transfer”, “female AND adolscent (Mesh Terms) AND rokitans* AND disease management AND quality of life”

The search in PubMed using both search strategies resulted in a total of 2,149 hits.

• Screening Phase

After excluding duplicates (n=365), all publications found in the search were first evaluated according to title and abstract by two reviewers from the project team, independently from one another, with regard to suitability for the study question. This resulted in the exclusion of 1,615 hits. After a positive evaluation by both reviewers, the full-text was used for further analysis.

• Full-text Analysis Phase

Following the screening phase, 166 hits were available for the full-text analysis. The full texts were read by a third person who made the final decision on inclusion in this review, and extracted the necessary content from the publications. The reference lists of the full-text publications read were also viewed for possible other suitable publications. In the course of this process, an additional 154 hits were excluded (editorials, descriptive publications, and therapy studies). Publications were excluded that were not written in either German or in English. Studies were also excluded if, due to the target group, the subject, or the disease, there was no transferability to the situation of patients with MRKHS.

• Integration Phase

A total of 12 publications were included from the full-text analysis and an additional 7 publications from the reference lists of the included publications were integrated into the literature review (4, 7, 14-30).