Genetic association of MRKH with galactosemia [76] or with cystic fibrosis [4] has been analysed but neither the gene for galactose-1-phosphate uridyl transferase (GALT) [77] nor the gene encoding the CFTR chloride channel [4] showed any mutation and/or polymorphism associated with Müllerian aplasia. Here, GALT is linked to Mayer-Rokitansky-Kuster-Hauser syndrome.