title: Müllerian agenesis: an update.
abstract: Recently, many advances have been made in the study of sexual differentiation, including the discoveries of the gene for antimüllerian hormone as well as the gene for its receptor. However, the etiology of the clinical syndrome of müllerian agenesis remains elusive. We hypothesize that activating mutations of either the antimüllerian hormone gene or its receptor gene may cause müllerian duct regression in a genetic female during embryogenesis. This clinical commentary discusses the current management of the syndrome including the Abbe-McIndoe procedure, the most commonly used method of surgical correction, and the Frank vaginal dilation method, the most common nonsurgical method of correction.
authors.affiliation: Department of Pediatrics, Indiana University School of Medicine, Indianapolis, USA.
authors.forename: E
authors.initials: E
authors.lastname: Lindenman
authors.forename: M K
authors.initials: MK
authors.lastname: Shepard
authors.forename: O H
authors.initials: OH
authors.lastname: Pescovitz
mesh_terms: D054304:Anti-Mullerian Hormone; D000013:Congenital Abnormalities / Q000601:surgery / Q000628:therapy; D005260:Female; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000235:genetics; D006801:Humans; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D012733:Sex Differentiation; D013577:Syndrome; D013735:Testicular Hormones / Q000235:genetics; D014621:Vagina / Q000002:abnormalities*
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone