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Liver abnormalities in Turner syndrome

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We evaluated whether hepatic abnormalities represent a specific feature in girls with Turner syndrome (TS) or whether they are related to an increased susceptibility to hormonal therapies and/or other factors. Alanine aminotransferase, aspartate aminotransferase and γ-glutamyl transferase were monitored in 70 patients with TS for a mean period of 7.6 ± 4.2 years. An increase in serum liver enzymes was observed in 14 out of 70 girls (20%) at a mean age of 12.7 years; it was present at entry before hormonal therapy in 3 girls and developed thereafter during the follow up in the other 11. The increase in serum liver enzymes was never observed before the age of 7 years. In the majority of cases (10/14) it was drug related: in 50% the liver abnormalities were transient and self-limiting, in the remaining cases they required interruption of hormonal therapy. Hepatotoxicity was more frequently observed in girls treated with oestrogens or oxandrolone than in those treated with growth hormone. In a small number of cases, liver disease was either auto-immunity-related (2/14), or cryptogenic (1/14) with a benign and self-limiting course. Obesity was a frequent finding, but it played a likely pivotal role only in one patient.

Conclusion Hepatic abnormalities are relatively frequent in Turner syndrome and surveillance of liver function should be included in the management of these patients independent of initiation of hormonal treatment.

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Received: 12 October 1998 and in revised form: 8 February 1999 / Accepted: 25 March 1999

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Salerno, M., Di Maio, S., Gasparini, N. et al. Liver abnormalities in Turner syndrome. Eur J Pediatr 158, 618–623 (1999).

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  • Key words Alanine aminotransferase
  • Aspartate aminotransferase
  • γ-Glutamyl transferase
  • Oestrogens
  • Turner syndrome