title: [Molecular biology of normal and pathologic anti-müllerian hormone].
abstract: Anti-Müllerian hormone, responsible for Müllerian regression in male fetuses, is a glycoprotein dimer with two 72 kD subunits. The AMH gene is a small (2,800 bp) gene with 5 exons, localized on the tip of the short arm of chromosome 19, band p 133, and transcribed in a 2,000 kbp mRNA. Persistent Müllerian duct syndrome, a rare form of male pseudohermaphroditism characterized by the presence of uterus and Fallopian tubes in patients with normally virilized genitalia, may result from defective AMH gene or from target-organ insensitivity. Four mutations were identified in the AMH gene, 3 are point mutations (2 stop codons, the third altering the secondary structure of the molecule), the last is a 14 bp deletion, leading to alteration of the reading frame of the mRNA.
authors.affiliation: Unité de Recherches sur l'Endocrinologie du Développement INSERM U293, Département de Biologie, Montrouge.
authors.forename: S
authors.initials: S
authors.lastname: Imbeaud
authors.forename: D
authors.initials: D
authors.lastname: Carre-Eusebe
authors.forename: L
authors.initials: L
authors.lastname: Boussin
authors.forename: B
authors.initials: B
authors.lastname: Knebelmann
authors.forename: D
authors.initials: D
authors.lastname: Guerrier
authors.forename: N
authors.initials: N
authors.lastname: Josso
authors.forename: J Y
authors.initials: JY
authors.lastname: Picard
mesh_terms: D054304:Anti-Mullerian Hormone; D012734:Disorders of Sex Development / Q000235:genetics / Q000378:metabolism*; D005796:Genes / Q000235:genetics; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D012708:Sertoli Cells / Q000378:metabolism; D013735:Testicular Hormones / Q000235:genetics* / Q000378:metabolism
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D013735:Testicular Hormones; D054304:Anti-Mullerian Hormone
vernacular_title: Biologie moléculaire de l'hormone anti-müllérienne normale et pathologique.