35. A Patient with Rubinstein-Taybi Syndrome Found to Have M üllerian Agenesis: A Previously Unreported Presentation

Rubinstein-Taybi syndrome (RTS) is a genetic condition caused by either a mutation in the CREBBP (type 1) or EP300 (type 2) gene and is characterized by short stature, failure to thrive, gastrointestinal motility issues, characteristic facial features, intellectual disability, and variable malformations including septate uterus. M üllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), is defined as congenital aplasia of the uterus and upper vagina. Though there are several candidate genes that are associated with MRKH, a single causal genetic mutation is rarely identified.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research