CF Gene Mutation Does Not Cause Müllerian Aplasia

Müllerian aplasia is a well-recognized anomaly in which the fallopian tubes, uterus, cervix, and upper portion of the vagina are congenitally absent, while the ovaries are intact and the external genitalia unquestionably female. The only disorder that is ordinarily considered in the differential diagnosis is 46,XY androgen insensitivity (also known as testicular feminization).

For several years, investigators at Beth Israel Deaconess Medical Center in Boston, including one of our editors (Dr. Davis), have sought a molecular explanation for Müllerian aplasia. In this study, they reasoned that the cystic fibrosis transmembrane conductance regulator (CFTR) gene might be perturbed in this disorder, just as CFTR perturbations lead to absence of t…