Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1994-5-23
pubmed:abstractText
A rare form of familial male pseudohermaphroditism, the persistent Müllerian duct syndrome (PMDS) is characterized by persistence of uterus and Fallopian tubes in 46,XY phenotypic males and is ascribed to defects in the synthesis or action of anti-Müllerian hormone (AMH). Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described. Molecular analysis of the AMH gene has now been performed in 21 additional patients and their families. In 6 patients, with normal serum concentration of AMH, the AMH gene was normal or contained only polymorphisms and silent mutations, supporting the hypothesis that the condition is due to end-organ resistance. Nine novel mutations were discovered in the remaining subjects, with low or undetectable levels of serum AMH. These mutations, when present in homozygotes or compound heterozygotes, were associated with the PMDS phenotype, the same mutation never being observed in two different families. The three first exons of the AMH gene appear particularly mutation-prone, although they are less GC rich than the 2 last ones and code for the N-terminal part of the AMH protein, which is not in itself essential to bioactivity.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
125-31
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:8162013-Anti-Mullerian Hormone, pubmed-meshheading:8162013-Base Sequence, pubmed-meshheading:8162013-Cloning, Molecular, pubmed-meshheading:8162013-DNA, pubmed-meshheading:8162013-DNA Primers, pubmed-meshheading:8162013-Disorders of Sex Development, pubmed-meshheading:8162013-Exons, pubmed-meshheading:8162013-Female, pubmed-meshheading:8162013-Glycoproteins, pubmed-meshheading:8162013-Growth Inhibitors, pubmed-meshheading:8162013-Heterozygote, pubmed-meshheading:8162013-Homozygote, pubmed-meshheading:8162013-Humans, pubmed-meshheading:8162013-Male, pubmed-meshheading:8162013-Molecular Sequence Data, pubmed-meshheading:8162013-Mullerian Ducts, pubmed-meshheading:8162013-Mutation, pubmed-meshheading:8162013-Phenotype, pubmed-meshheading:8162013-Polymerase Chain Reaction, pubmed-meshheading:8162013-Polymorphism, Genetic, pubmed-meshheading:8162013-Restriction Mapping, pubmed-meshheading:8162013-Testicular Hormones, pubmed-meshheading:8162013-Testis
pubmed:year
1994
pubmed:articleTitle
Molecular genetics of the persistent müllerian duct syndrome: a study of 19 families.
pubmed:affiliation
Unité de Recherches sur l'Endocrinologie du Développement (INSERM) Ecole Normale Supérieure, Département de Biologie, Montrouge, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't