Abstract

Disorders that cause congenital scoliosis include Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We present the case of a 46-year-old karyotypical (XX) woman with müllerian agenesis (MRKH type A, typical form), a rudimentary bicornate uterus, a blind vaginal pouch, and adenocarcinoma of both ovaries with subsequent bilateral salpingo-oophorectomy. She also had scoliosis of the thoracic and lumbar spine, an association thus far seen only among patients with type B (atypical) MRKH. We describe typical and atypical forms of MRKH and emphasize how these various anomalies associated with müllerian agenesis have affected the classification of the syndrome. We also outline possible embryologic etiologies of müllerian agenesis.