Mutations in LHX1 (99) and deletions at 17q12, encompassing LHX1 and HNF1B, have been detected in patients with MRKH syndrome (100, 101); mutations in the HNF1B gene have been detected in a familial case, in which two out of four female mutation carriers were affected by uterine malformations (102). This evidence concerns the gene LHX1 and Mayer-Rokitansky-Küster-Hauser syndrome.