title: Ductopenia and fetal liver-like architecture as unique and evocative sign of Turner syndrome.
abstract: BACKGROUND
  Turner syndrome is the most common genetic disorder in females. In most subjects, with a normal physical appearance at birth, the diagnosis is suspected long after birth because of short stature, delayed puberty, primary or secondary amenorrhea or infertility. Abnormalities of liver function tests are reported in literature, with a prevalence ranging from 20% to 80%. In most subjects liver diseases are self-limiting, associated with obesity, hormonal therapy and autoimmune diseases. An association between Turner syndrome and cryptogenic liver disease has been reported. Abnormalities of liver function tests could be the unique sign of Turner syndrome in subjects with normal phenotypes. The histological picture of "fetal liver-like architecture" and "ductopenia" is of fundamental importance for the diagnosis of chromosomopathy.
  
  
  OBJECTIVE
  Review the causes of hypertransaminasemia by focusing on more rare as metabolic and genetic diseases.
  
  
  METHODS
  We evaluated a 10 year old girl with a normal phenotype affected by chronic hypertransaminasemia and cholestasis, in whom a needle liver biopsy was performed after the most common causes of hypertransaminasemia were excluded.
  
  
  RESULTS
  Liver histological evaluation revealed a smoldering colangiopathy with mild ductopenia and a fetal liver-like architecture. Turner syndrome, suspected on the basis of this histological picture, was confirmed by a pelvic ultrasound and a chromosome analysis.
  
  
  CONCLUSIONS
  The histological features of "fetal liver-like architecture" and "ductopenia" represent an evocative sign that could indicate the diagnostic suspicion of Turner syndrome in a subject lacking in signs or symptoms of this disease. It is important to perform a pelvic ultrasound and an endocrinological evaluation in all females with chronic asymptomatic hypertransaminasemia even though they have normal phenotypes.
authors: Department of Pediatrics, School of Medicine, Catholic University of the Sacred Heart, Rome, Italy. pvalentini@rm.unicatt.it  
authors: P
authors: P
authors: Valentini
authors: D F
authors: DF
authors: Angelone
authors: A
authors: A
authors: Rossodivita
authors: P
authors: P
authors: Francalanci
authors: D
authors: D
authors: Buonsenso
authors: M
authors: M
authors: Ceccarelli
authors: F
authors: F
authors: Callea
mesh_terms: D002648:Child; D005260:Female; D005333:Fetus / Q000033:anatomy & histology*; D006801:Humans; D008099:Liver / Q000473:pathology*; D014424:Turner Syndrome / Q000175:diagnosis / Q000473:pathology*