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Case Report

Extrahepatic Portal Vein Obstruction Associated with Turner Syndrome

Suman Kumar Kotwal* , Suman Kumar Kotwal* , Shalija Kotwal** , Abhinav Raina*** , J.B Singh* , Swati Sharma**** , Annil Mahajan*****

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Indian Journal of Medical and Health Sciences 3(2):p 139-141, July - December 2016. | DOI: DOI: https://dx.doi.org/10.21088/ijmhs.2347.9981.3216.12

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Abstract

 Turner syndrome (TS) is a sex chromosomal disorder. It is due to complete or partial absence of the second sex chromosome in females. Liver functions test abnormalities is common in Turner patients, but vascular hepatic involvement in Turner syndrome patients has been scarcely reported. 18­ year­old girl presented with complaints of discomfort/dragging sensation in left upper abdomen for last one year and primary amenorrhea. She had short stature, short neck and low hairline with multiple naevi over face. Her TSH was 2.29 uIU/ ml. FSH was 100.40 mIU/ml and LH was 18.40 mIU/ ml. HBsAg and Anti HCV antibody was negative. Ultrasonography abdomen with Doppler revealed splenomegaly of 20cm with collaterals at hilum and lateral surface with formation of portal cavernoma. Agenesis of gonads with hypoplastic uterus was noted. Endoscopy revealed Grade I x III varices in esophagus. Echocardiography revealed bicuspid Aortic valve with mild Aortic stenosis. Karyotyping revealed 45, XO. Patient was started on beta­blockers and conjugated estrogen. Conclusion: This case report highlights that vascular hepatic involvement in Turner syndrome patients is not uncommon and it could be part of a more generalized vascular disorder.

Keyword: Turner Syndrome; Portal Vein; Non Cirrhotic Portal Fibrosis; Thrombosis.

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DOI: DOI: https://dx.doi.org/10.21088/ijmhs.2347.9981.3216.12

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