45. Mullerian Agenesis: Evaluating Ovarian Insufficiency Without the Main Vital Sign

There are no case reports of concomitant of fragile X mutation and Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH). Their combination presents a novel diagnostic challenge in monitoring for the development of primary ovarian insufficiency, a known complication of Fragile X mutation.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research