ESPE Yearbook of Paediatric Endocrinology

Orphanet J Rare Dis. 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. https://www.ncbi.nlm.nih.gov/pubmed/32819397

This is an excellent and detailed systematic review on all relevant aspects of the MRKH syndrome. This review is also very timely, due to the many recent genetic and therapeutic advancements and the last in-depth overview of the syndrome dates several years previously.

Apart from comprehensively summarizing the available scientific evidence on MRKH, the authors highlight the importance of a holistic approach, with an emphasis on psychosocial support and supportive care. The safety and advantages of vaginal dilation convincingly place this technique as the first line vaginal substitution therapy. Major recent advancements include a breakthrough in the genetic etiology of MRKH type II (MURCS syndrome), with the identification of autosomal dominant iGREB1L missense mutations in 5 unrelated families with MURCS. A therapeutic breakthrough was the first successful uterus transplantation procedures in 7 of 9 women with MRKH in 2013 and the first healthy livebirth after uterus transplantation in 2014. The subsequent implementation of this technique in specialist centres around the world and its future applications are discussed. In summary, this review will be the reference for all health professionals involved in the care for women with MRKH in the next few years.