Abstract
Background
Mayer–Rokitansky–Küster–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.
Key Words
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Article info
Publication history
Published online: May 03, 2018
Footnotes
The authors indicate no conflicts of interest.
Identification
Copyright
© 2018 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc.
