title: Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler-Weber-Rendu syndrome): a case report.
abstract: BACKGROUND
  A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is described.
  
  
  METHODS
  She presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) was made based on the presence of three Curacao criteria (out of four). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension. She had a muscular build, with elevated serum testosterone but low serum dehydroepiandrosterone sulphate levels. This could be attributed to impaired sulfation of dehydroepiandrosterone due to portocaval shunting of blood, leading to hyperandrogenemia.
  
  
  CONCLUSIONS
  Hyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. ruwangi@pdt.cmb.ac.lk.
authors.forename: R
authors.identifier: http://orcid.org/0000-0003-2770-3235
authors.initials: R
authors.lastname: Dissanayake
authors.affiliation: Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
authors.forename: K P K Y M D S
authors.initials: KP
authors.lastname: Wickramarathne
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors.forename: S N
authors.initials: SN
authors.lastname: Seneviratne
authors.affiliation: Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
authors.forename: S N
authors.initials: SN
authors.lastname: Perera
authors.affiliation: Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
authors.forename: M U J
authors.initials: MU
authors.lastname: Fernando
authors.affiliation: Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
authors.forename: V P
authors.initials: VP
authors.lastname: Wickramasinghe
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D008107:Liver Diseases / Q000097:blood* / Q000150:complications*; D008279:Magnetic Resonance Imaging; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000097:blood* / Q000150:complications*; D013739:Testosterone / Q000097:blood*; D055815:Young Adult
chemical_list: D013739:Testosterone
keywords: Arterio venous malformation; Elevated serum testosterone; Hereditary hemorrhagic telangiectasia; Liver nodules