title: Persistence of Müllerian derivatives in males.
abstract: The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives-uterus and fallopian tubes-in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a mutation of the anti-müllerian hormone (AMH) gene was detected; 52% were homozygous. The level of circulating AMH was extremely low in the great majority of patients, even before puberty, when AMH levels are normally high. Single-strand conformation polymorphism (SSCP)-polymerase chain reaction (PCR) was a very effective screening method. In 39% of families, characterized by an AMH level normal for the age of the patient, a mutation of the type II receptor of AMH was detected by automatic sequencing, because SSCP-PCR was not very effective. Forty-eight percent of the mutations were homozygous. A 27-base-pair deletion in exon 10 was noted in 45% of the families. When this very common mutation is not taken into account, the proportion of recurrent mutations is 42% for the AMH gene and 33% for the AMH receptor type II gene. In 16% of families, no mutation of either the AMH or the AMH receptor gene was detectable; this group may correspond to mutations of unknown genes involved in AMH processing or in downstream AMH transduction.
authors.affiliation: Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Département de Biologie, 1 rue Maurice Arnoux, 92120 Montrouge, France. josso@wotan.ens.fr
authors.forename: C
authors.initials: C
authors.lastname: Belville
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; D005190:Family; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D005832:Genital Diseases, Male / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics*; D006023:Glycoproteins; D006131:Growth Inhibitors / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000378:metabolism; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D018000:Receptors, Peptide / Q000235:genetics; D018125:Receptors, Transforming Growth Factor beta; D012708:Sertoli Cells / Q000378:metabolism; D013735:Testicular Hormones / Q000096:biosynthesis / Q000172:deficiency / Q000235:genetics
chemical_list: D006023:Glycoproteins; D006131:Growth Inhibitors; D018000:Receptors, Peptide; D018125:Receptors, Transforming Growth Factor beta; D013735:Testicular Hormones; C084621:anti-Mullerian hormone receptor; D054304:Anti-Mullerian Hormone