Serum liver enzymes in Turner syndrome

Increased serum concentrations of liver enzymes are sometimes observed, in the absence of clinical symptoms of liver disease, in patients with Turner syndrome. The purpose of this study was to evaluate, in our Turner patients , serum liver enzyme levels and to find a cause for their increase. In 70 T urner patients, serum AST, ALT, GGT levels were evaluated every 6 months du ring a period of 0.8-21.9 years. In patients in whom increased values of li ver enzymes were found, serological markers for infectious hepatitis, serum hepatitis C virus RNA and virus genotype, IgG and IgA antibodies to gliadi n and endomysium, coeruloplasmin, copper, alpha(1)-antitrypsin, total prote ins and electrophoresis, IgG, IgA, IgM, fibrinogen, prothrombin, alkaline p hosphatase, creatine kinase and total and direct bilirubin were also determ ined. Antinuclear, anti-smooth muscle and anti-liver-kidney microsome antib odies together with antithyroglobulin and anti-thyroid peroxidase antibodie s were determined in all patients and in 166 age-matched female controls. I n 22 patients, increased liver enzymes were observed, not related to karyot ype. Follow-up showed that the hepatic disorder did not worsen with the tim e. Serological markers of hepatitis C virus were positive in three patients . When the serum liver enzyme increase was first observed in the other 19 p atients with high enzyme levels (group A), 14 patients had never been submi tted to hormonal treatment, 4 were on oestrogen/gestagen treatment and 1 wa s being treated with both growth hormone and oestrogen. Coeliac disease, al pha(1)-antitrypsin deficiency and Wilson disease were ruled out by appropri ate investigations. In 8/19 group A patients, antinuclear and/or anti-smoot h muscle antibodies were present versus 6/48 of patients with normal liver enzymes (group B). Thyroid antibodies were found in 8/19 patients in group A and in 13/48 in group B. Weight excess SDS was significantly higher in Tu rner girls with liver enzyme increase. Ultrasonography, performed in 17 pat ients of group A, showed mild hepatomegaly in 4 and increased echogenicity with fatty infiltration in 6. Conclusion Hepatic abnormalities in Turner syndrome are not progressive. Oe strogen should not be considered the main cause of increased liver enzymes in Turner syndrome since most of our patients with this finding had not bee n previously treated with oestrogens. An auto-immune pathogenesis might be considered in some cases, whereas the association with weight excess seems the most frequent cause of liver disorder in Turner syndrome.