Hepatic abnormalities in youth with Turner syndrome.

BACKGROUND & AIMS: Liver disease in children with Turner Syndrome (TS) is poorly understood relative to associated growth, cardiac and reproductive complications. This study sought to better characterize hepatic abnormalities in a large national cohort of youth with TS. METHODS: Using electronic health record data from PEDSnet institutions, 2145 females with TS were matched to 8580 females without TS on eight demographic variables. Outcomes included liver enzymes (AST and ALT) stratified as normal, 1-2 times above the upper limit of normal (ULN), 2-3 times ULN and >3 times ULN, as well as specific liver disease diagnoses. RESULTS: Fifty-eight percent of youth with TS had elevated liver enzymes. Patients with TS had higher odds of enzymes 1-2 times ULN (OR: 1.7, 95% CI: 1.4-1.9), 2-3 times ULN (OR: 2.7, 95% CI: 1.7-3.3) and >3 times ULN (OR: 1.7, 95% CI: 1.3-2.2). They also had higher odds of any liver diagnosis (OR: 2.4, 95% CI: 1.7-3.3), fatty liver disease (OR: 1.9, 95% CI: 1.1-3.2), hepatitis (OR: 3.7, 95% CI: 1.9-7.1), cirrhosis/fibrosis (OR: 5.8, 95% CI: 1.3-25.0) and liver tumour/malignancy (OR: 4.8, 95% CI: 1.4-17.0). In a multinomial model, age, BMI and presence of cardiovascular disease or diabetes significantly increased the odds of elevated liver enzymes in girls with TS. CONCLUSIONS: Youth with TS have higher odds for elevated liver enzymes and clinically significant liver disease compared with matched controls. These results emphasize the need for clinical screening and additional research into the aetiology and treatment of liver disease in TS. LAY SUMMARY: Turner Syndrome, a chromosomal condition in which females are missing the second sex chromosome, is often associated with short stature, infertility and cardiac complications. Liver abnormalities are less well described in the literature. In this study, nearly 60% of youth with TS have elevated liver enzymes. Furthermore, patients with TS had a diagnosis of liver disease more often than patients without TS. Our results support the importance of early and consistent liver function screening and of additional research to define mechanisms that disrupt liver function in paediatric TS females.

Screening and Referral Practices for Nonalcoholic Fatty Liver Disease by Race and Ethnicity in a Primary Care Clinic.

Nonalcoholic fatty liver disease (NAFLD) is the most common pediatric liver disease in the developed world, with primary care providers caring for many at-risk children. The prevalence of NAFLD varies widely by race and ethnicity. OBJECTIVE: To explore racial differences in screening and referral patterns for NAFLD among a high-risk pediatric population. METHODS: This retrospective cohort study studied primary care patients at Children's of Alabama aged 5-17 years with BMI ≥ 85th percentile from 2008 to 2018. The main outcomes of interest were screening for NAFLD with alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and referral to Hepatology, Endocrinology, or Weight Management clinics. RESULTS: Of 666 children with BMI ≥ 85th percentile, 65% were screened at least once for NAFLD during the designated study period. Liver enzyme screening was performed in 54% of Hispanic Whites, 50% of non-Hispanic Whites, and 74% of African Americans (p-value < 0.001). African American patients had the lowest rate of abnormal liver enzymes (defined as ALT and/or AST > 1 × upper limit of normal). Among all patients with abnormal liver enzymes, 87% of non-Hispanic Whites, 92% of Hispanic Whites, and 17% of African Americans were referred (p-value < 0.0001). CONCLUSIONS: Significant differences exist in NAFLD screening and referral practices by race/ethnicity. African Americans were far less likely to be referred for abnormal screening labs than their counterparts of other races. Awareness of these differences may allow for more intentional efforts to standardize practices, ensuring all patients receive care according to established guidelines.