title: [Turner syndrome and nodular regenerative hyperplasia of the liver].
abstract: Turner's syndrome is an ovarian dysgenesis (karyotype 45 X0) characterized by sexual infantilism and multiple malformations. Liver enzyme anomalies are often observed, but the underlying pathogenic mechanism remains unknown. Nodular regenerative hyperplasia of the liver is associated with another disease in about 80% of cases. However, these two diseases have only been reported together in one woman. We describe here a second case of this association "Turner's syndrome and nodular regenerative hyperplasia". We think that women with Turner's syndrome should benefit from screening for nodular regenerative hyperplasia by searching for elevated liver enzymes. This easily applicable screening protocol would provide early diagnostic of nodular regenerative hyperplasia and allow early and effective treatment of portal hypertension. Moreover, this approach would improve our knowledge of this association.
authors.affiliation: Service de Médecine Interne, Hôpital Cochin, Paris.
authors.forename: T
authors.initials: T
authors.lastname: Thevenot
authors.forename: R
authors.initials: R
authors.lastname: Dhote
authors.forename: M
authors.initials: M
authors.lastname: Tulliez
authors.forename: F
authors.initials: F
authors.lastname: Baverel
authors.forename: S
authors.initials: S
authors.lastname: Permal
authors.forename: D
authors.initials: D
authors.lastname: Rabineau
authors.forename: B
authors.initials: B
authors.lastname: Christoforov
mesh_terms: D000328:Adult; D005260:Female; D005820:Genetic Testing; D006801:Humans; D006965:Hyperplasia; D007674:Kidney Diseases / Q000175:diagnosis / Q000235:genetics*; D008099:Liver / Q000473:pathology; D008111:Liver Function Tests; D008115:Liver Regeneration / Q000235:genetics*; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*