Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic.

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2019
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Abstract
Liver function test (LFT) abnormalities, which may reflect underlying pathophysiology, are a well-known feature of Turner syndrome. Less frequently, liver findings may include vascular changes and, rarely, severe liver disease. Although previous studies on children and adolescents suggest a frequency of LFT abnormalities of up to 60%, less is known about the age at onset and natural history.We report a now 19-year-old young woman with Turner syndrome mosaicism with elevated transaminase levels first detected at the age of 2 years. We also present a retrospective analysis of 179 girls and women followed in the MassGeneral Hospital Turner Syndrome Clinic.In the index case, the severity of liver function test abnormalities fluctuated without complete resolution from 2 to 18 years of age. In the full cohort of 179 patients, when lab results were available, elevated ALT levels occurred in 16 (11%) subjects of all ages, and in 5 (10%) patients ā‰¤18 years of age. Significant and persistent ALT elevations occurred in 2 patients <10 years of age.The updated Clinical Practice Guidelines for the care of girls and women with Turner syndrome recommend annual liver function tests throughout the lifespan, starting at the age of 10 years. Based on our data showing persistent elevation of at least one liver enzyme, we recommend a prospective and more comprehensive study of liver function in younger patients with Turner syndrome. An improved estimate of prevalence could better inform age-adjusted guidelines.
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jafri2019furtherhormone Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Jafri, Rabab Z;McNamara, Erin A;Snyder, Emma A;Shah, Uzma;Singh, Isani;Hayes, Frances J;Lin, Angela E;Levitsky, Lynne L;
Journal hormone research in paediatrics
Year 2019
DOI 10.1159/000502842
URL
Keywords
obesity cirrhosis fatty liver hormone replacement therapy estrogen liver function tests transaminase turner syndrome vascular malformations

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