It is noteworthy that mutations within the hepatocyte nuclear factor (HNF)-1β gene, originally found associated with MODY-type diabetes [82] and with diabetes mellitus, renal dysfunction and genital malformations [83], were suspected to account for an MRKH-like phenotype [83,84] (OMIM 158330 [25]). Here, HNF1B is linked to Mayer-Rokitansky-Kuster-Hauser syndrome.