Abstract
BackgroundA Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) is described.Case presentationShe 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.ConclusionsHyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia.
Highlights
A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) is described.Case presentation: She presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia
Hyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia
A 16-year old girl from a remote village in Sri Lanka is described. Case presentation She was referred from the Paediatric Cardiology Unit to the University Unit of Lady Ridgeway Hospital for Children (LRH) for further evaluation of jaundice
Summary
Hyperandorogenemia due impaired sulfation of dehydroepiandrosterone as a result of portocaval shunting is seen in Hereditary haemorrhagic telangiectasia.
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