title: Molecular analysis of the anti-Müllerian hormone, the anti-Müllerian hormone receptor, and galactose-1-phosphate uridyl transferase genes in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.
abstract: BACKGROUND
  Müllerian agenesis, also named the Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) or vaginal aplasia, is the second most common cause of primary amenorrhea. It is characterized by the congenital absence of the Müllerian structures including the Fallopian tubes, the uterus, and the internal portion of the vagina in an otherwise normally feminized 46,XX subject. Most cases are sporadic in inheritance, but the occurrence of some patients with chromosomal translocations or even familial aggregates suggest a genetic basis for the disease, although the etiology of the disease is still unknown. It has been suggested that activating mutations in the anti-Müllerian hormone (AMH) or in its receptor (AMHRII) are potential sources for the defect.
  
  
  METHODS
  In this study we describe the molecular analysis of both the AMH and AMHR genes in a group of 15 patients with Müllerian agenesis. After sequencing all exons and exon/intron junctions of both genes, we were not able to detect any deleterious mutation.
  
  
  RESULTS
  Five new polymorphisms, 2 of them in the AMHRII gene and 3 of them in the AMH gene, were identified. No significant differences between patients and controls were observed in the frequency of a given polymorphism.
  
  
  CONCLUSIONS
  This work reinforces the view that molecular defects in the AMH or AMHR are unlikely sources for the MRKHS syndrome.
authors.affiliation: Department of Genetics, Hospital General de Mexico-Facultad de Medicina UNAM, Dr. Balmis 148, Col. Doctores, 06726 Mexico City, Mexico. skofman@servidor.unam.mx
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Zenteno
authors.forename: Sebastian
authors.initials: S
authors.lastname: Carranza-Lira
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
mesh_terms: D054304:Anti-Mullerian Hormone; D016022:Case-Control Studies; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D011110:Polymorphism, Genetic; D018000:Receptors, Peptide / Q000235:genetics; D018125:Receptors, Transforming Growth Factor beta; D013577:Syndrome; D013735:Testicular Hormones / Q000235:genetics; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics
chemical_list: D006023:Glycoproteins; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; D013735:Testicular Hormones; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase