title: High frequency of X chromosome abnormalities in women with short stature and elevated liver enzymes.
abstract: BACKGROUND
  Paucisymptomatic forms of Turner's syndrome (TS), in which short stature is the predominant clinical abnormality, remain underdiagnosed. Abnormal liver tests are extremely frequent in adult TS patients reflecting various types of hepatic lesions.
  
  
  OBJECTIVE
  The objective of the study was to investigate whether unexplained elevated liver enzymes in women with short stature could reveal X chromosome abnormalities of undiagnosed TS.
  
  
  METHODS
  Thirty-one consecutive short stature women displaying elevated liver enzymes and no previous diagnosis of TS were compared with 31 age-matched controls in a prospective study. Liver biopsy was performed in 26 patients.
  
  
  METHODS
  Systematic karyotype analysis and fluorescence in situ hybridization.
  
  
  RESULTS
  X chromosome abnormalities were found in 27 patients and one control (87.0% vs 3.2%, P < .0001), including a 45,X/46,XX mosaicism in 24 patients and isochromosome of the long arm in three. Liver histological analysis showed architectural changes in 17 patients with nodular regenerative hyperplasia in 12. Biliary lesions were present in 13 patients and liver steatosis in 20.
  
  
  CONCLUSIONS
  X chromosome abnormalities indicative of cryptic TS are extremely frequent in short-stature women with unexplained elevated liver enzymes. In short-stature women, abnormal liver tests should lead to systematic karyotype analysis.
authors.affiliation: Unité d'Hépatologie (D.R.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Avicenne, Assistance Publique-Hôpitaux de Paris, 93000 Bobigny, France; Service d'Hépato-Gastroentérologie (V.B., M.B.), Service d'Anatomo-Pathologie (M.Z.), and Service d'Histologie-Embryologie et Cytogénétique, Biologie de la Reproduction (B.B.), Groupe Hospitalier Paris-Seine-St Denis, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, 93143 Bondy, France; Université Paris 13, Sorbonne Paris Cité (D.R., M.Z., M.B., B.B.), 93000 Bobigny, France; Département de Génétique (V.M.), Université Paris Descartes, INSERM Unité 781, Hopital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75014 Paris, France; Service d'Endocrinologie et Diabétologie de l'Enfant (A.L.), Groupe Hospitalier Paris Sud, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, and Université Paris Sud, INSERM Unité 936, 94270 Le Kremlin-Bicêtre, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Roulot
authors.forename: Valérie
authors.initials: V
authors.lastname: Malan
authors.forename: Marianne
authors.initials: M
authors.lastname: Ziol
authors.forename: Agnès
authors.initials: A
authors.lastname: Linglart
authors.forename: Valérie
authors.initials: V
authors.lastname: Bourcier
authors.forename: Michel
authors.initials: M
authors.lastname: Beaugrand
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D041321:Chromosomes, Human, X; D004392:Dwarfism / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008099:Liver / Q000201:enzymology; D008107:Liver Diseases / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D008111:Liver Function Tests; D008875:Middle Aged; D015995:Prevalence; D012729:Sex Chromosome Aberrations / Q000706:statistics & numerical data*; D014424:Turner Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics*