Porto-Sinusoidal Vascular Disorder: An Under-Recognized Liver Manifestation in Turner Syndrome

Turnersyndrome (TS) is a genetic chromosomal disorder including various manifestations depending on the karyotype;endocrine, gastrointestinal, respiratory, neurological, urogenital, musculoskeletal, and cardiovascular disorders contribute to increased morbidity and mortality. Liver function abnormalitiesare less well studiedand mostly associated withinsulinresistance, obesity, diabetes, hypogonadism, hypothyroidism, and autoimmune conditions. The association of liver pathology with architectural changes of various etiologies and the metabolicdysfunction-associated liver diseaseis of particular interest. Herein, we presentthree cases of adult women with TSand persistent elevation of liver enzymesdue toporto-sinusoidal vascular disorder(PSVD). In one case,the diagnosis of TS followedthe liver biopsy results.The absence of cardiometabolic risk factors, the low liver stiffness andthe cardiovascular malformationsmay predict this histological diagnosis. Liver function impairment in TS may derive from a broad spectrum of liver pathology, including PSVD, and requires careful evaluation,to decrease the risk of complications.