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Liver abnormalities and portal hypertension in Ullrich-Turner syndrome

✍ Scribed by Garavelli, L.; Donadio, A.; Banchini, G.; Fornaciari, G.; Plancher, A.C.; Franchi, F.; Gardini, G.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 32 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981102)80:2<180::aid-ajmg18>3.0.co;2-u

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✦ Synopsis

and attributed to the concurrence of cirrhosis and to abnormality of intrahepatic vascular development on a dysembryogenetic basis.

Other hepatic abnormalities have been reported, including cholestasis in infancy [Gardner, 1974] and portal fibrosis [Calais et al., 1966]. Hepatic histology in a woman with UTS showed characteristics of newborn liver, and it was speculated that this was due to a lack of stimulation by sex steroids [Ulissi and Ricci, 1989].

Recently we saw a 32-year-old-woman diagnosed with UTS in infancy. Cytogenetic analysis showed a 45,X karyotype, with no evidence of mosaicism. Family history was unremarkable.

Pregnancy and delivery were uncomplicated; birth weight was 2,600 g and length 45 cm. Pelvic ultrasound study at 9 years disclosed an infantile uterus with streak gonads. Results of echocardiography and renal echography were normal. At the age of 16 years the patient was treated for a few months with estrogens. At

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