Mayer-Rokitansky-Kuster-Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH; Online Mendelian Inheritance in Man #277000) is a rare disorder of the female reproductive tract. Its etiology is still unknown for most patients, although the genetic background of this condition has been intensively studied. Chromosome 16p11.2 deletion syndrome (Online Mendelian Inheritance in Man #611913) is a well known recurrent deletion syndrome that can present with various clinical phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, obesity, and an increased frequency of congenital defects. Case: Herein we report a patient with 16p11.2 recurrent microdeletion in whom MRKH syndrome was diagnosed in adolescence. Summary and Conclusion: Our purpose is to underscore the possible presence of gynecological malformations in patients with 16p11.2 microdeletion and highlight the utility of a genetic evaluation in cases of MRKH syndrome.