Abstract
Elevated liver enzymes can be seen relatively frequently in patients with Turner syndrome (TS), while the pathogenesis of this remains unclear. Our epidemiological and prospective study aimed to investigate: a) the natural 2- yr course of liver disease in a selected cohort of young patients with TS, who had been preliminarily recruited on the basis of persistently elevated liver enzymes; b) the role of prolonged hormonal therapies in the etiology of liver dysfunction. From an overall population of 214 TS patients younger than 20 yr, only 19 (8.9%) were recruited, according to the following inclusion criteria: increased serum concentrations of one or more liver enzymes, exceeding the uppermost limit of the respective normal ranges, and persistence of these liver alterations for 6 months after the preliminary assessment. On the basis of the results of this prospective study, we can conclude that: a) the prevalence of liver abnormalities in girls and adolescents with TS is much lower and more strictly related to hormonal therapies than in TS adults; b) both autoim-munity and obesity are not frequently involved in the etiology of TS liver dysfunction; c) liver damage is either mild or moderate and its severity is not conditioned by karyotype; d) its course may be self-limiting; e) its natural history may be characterized in some cases by a slight deterioration of intrahepatic cholestasis, with no negative repercussions on liver synthetic function.
Similar content being viewed by others
References
Larizza D, Locatelli M, Vitali L, et al. Serum liver enzymes in Turner syndrome. Eur J Pediatr 2000, 159: 143–8.
Salerno M, Di Maio S, Gasprini N, Rizzo M, Ferri P, Vajro P. Liver abnormalities in Turner syndrome. Eur J Pediatr 1999, 158: 618–23.
Wardi J, Knobel B, Shahmurov M, Melamud E, Avni Y, Shirin H. Chronic cholestasis associated with Turner’s syndrome: 12 years of clinical and histopathological follow-up. Digestion 2003, 67: 96–9.
Albareda MM, Gallego A, Enriquez J, Rodriquez JL, Webb SM. Biochemical liver abnormalities in Turner’s syndrome. Eur J Gastroenterol Hepatol 1999, 11: 1037–9.
Milkiewicz P, Heathcote J. Can Turner syndrome teach us about the pathogenesis of chronic cholestasis? Hepatology 2004, 40: 1226–8.
Molland EA, Purcell M. Biliary atresia andthe Dandy-Walker anomaly in a neonate with 45,X Turner’s syndrome. J Pathol 1975, 115: 227–30.
Garavelli L, Donadio A, Banchini G, et al. Liver abnormalities and portal hypertension in Ullrich-Turner syndrome. Am J Med Genet 1998, 80: 180–2.
Szekely AM, Franco D, Dupuy JM, Job JC. Anomalies hèpatiques avec hypertension portale associèes a un syndrome de Turner. Arch Anat Cytol Pathol 1976, 24: 311–6.
Krivosheev AB. Development of liver cirrhosis in a female patient with Shereshevskii-Turner syndrome. Klin Med (Mosk) 1990, 68: 95–6.
Floreani A, Molaro M, Baragiotta A, Naccarato R. Chronic cholestasis associated with Turner’s syndrome. Digestion 1999, 60: 587–9.
Invernizzi P, Miozzo M, Battezzati PM, et al. Frequency of monosomy X in women with primary biliary cirrhosis. Lancet 2004, 363: 533–5.
Andrade RJ, Alcantara R, Fraile JM. Colestasis intraepatica cronica asintomatica asociada a sindrome de Turner. Gastroenterol Hepatol 1995, 18: 375–8.
Idilman R, De Maria N, Colantoni A, Kugelmas M, Van Thiel DH. Cirrhosis in Turner’s syndrome: case report and literature review. Eur J Gastroenterol Hepatol 2000, 12: 707–9.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner syndrome. J Clin Epidemiol 1998, 51: 147–58.
Cacciari E, Milani S, Balsamo A, et al. Italian cross-sectional growth charts for height, weight and BMI (6–12 y). EurJ Clin Nutr 2002, 56: 171–80.
Speiser PW, Rudolf MC, Anhalt H, et al. Consensus development: childhood obesity. J Clin Endocrinol Metab 2004 [Epub ahead of print].
Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner’s syndrome. Clin Endocrinol (Oxf) 2001, 55: 227–31.
Sylven L, Hagenfeldt K, Brondum-Nielsen K, von-Schoultz B. Middle-aged women with Turner’s syndrome. Medical status, hormonal treatment and social life. Acta Endocrinol (Copenh) 1991, 125: 311–6.
Cesaretti G, Rossi A, Franchi G, Saggese G. Hepatic side effects of growth hormone treatment. Riv Ital Pediatr 1994, 20: 537–40.
Yordam N, Kandemir N, Topaloglu H, Gogus S, Kucukali T. Myositis associated with growth hormone therapy. J Pediatr 1994, 125: 671.
Masters KW. Treatment of Turner’s syndrome-a concern. Lancet 1996, 348: 681–2.
Wemme H, Pohlenz J, Schonberger W. Effect of oestrogen/ gestagen replacement therapy on liver enzymes in patients with Ullrich-Turner syndrome. Eur J Pediatr 1995, 154: 807–10.
Illig R, Decampo C, Lang-Mauritano RM, et al. A physiological mode of puberty induction in hypogonadal girls by low dose transdermal 17-β-oestradiol. EurJ Pediatr 1990, 150: 86–91.
Saenger P. Turner’s syndrome. New Engl J Med 1996, 335: 1749–54.
Larizza D, Martinetti Bianchi M, Lorini R, et al. Autoimmunity, HLA, Gm and Km polymorphism in Turner’s syndrome. Autoimmunity 1989, 4: 69–78.
Meyer Zum Buschenfelde K-H, Lohse AW. Autoimmune hepatitis. N Engl J Med 1995, 333: 1004–5.
Meyer Zum Buschenfelde K-H, Lohse AW, Manns M, Poralla T. Autoimmunity and liver disease. Hepatology 1990, 12: 354–63.
Mieli-Vergani G, Vergani D. Autoimmune hepatitis. Arch Dis Child 1996, 74: 2–5.
Bernasconi S, Larizza D, Benso L, Volta C, Vannelli S, Milani S. Turner’s syndrome in Italy: familial characteristics, neonatal data, standards for birth weight and for height and weight from infancy to adulthood. Acta Paediatr 1994, 83: 292–8.
Franzese A, Vajro P, Argenziano A, et al. Liver involvement in obese children. Ultrasonography and liver enzyme levels at diagnosis and during follow-up in an Italian population. Dig Dis Sci 1997, 42: 1428–32.
Author information
Authors and Affiliations
Consortia
Corresponding author
Rights and permissions
About this article
Cite this article
Wasniewska, M., Bergamaschi, R., Matarazzo, P. et al. Increased liver enzymes and hormonal therapies in girls and adolescents with Turner syndrome. J Endocrinol Invest 28, 720–726 (2005). https://doi.org/10.1007/BF03347555
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF03347555