Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: it's more than the anatomy.

摘要

How do you counsel a patient with vaginal agenesis? The scenario is something like this. You complete your evaluation and the concerned parent says, "Does that mean my daughter will never have children?" Well, then we move to "she can have her own genetic child" through assisted reproduction-in vitro fertilization with a surrogate carrier. So what are the options at this point in time is the next query, and the story goes on from there. Well, we need to focus on MRKH syndrome and prepare you to address the various facets of the clinical challenge. We begin with the genetics: "polygenic/multifactorial mode of inheritance." In the study provided by Elias and co-workers it was noted that one of 37 (2.7%) of female sibs over age 16 appeared to have a symptomatic uterine anomaly. The overall prevalence of incomplete miillerian fusion defects is 0.5-4.5%. Management is a challenge. For instance: are you aware of the apparent association of hearing loss with the Connexin 26 gene, demonstrated by genomic DNA isolation and amplification polymerase chain reaction?