Serum liver enzymes in Turner syndrome
Abstract
Unlabelled 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 Turner patients, serum AST, ALT, GGT levels were evaluated every 6 months during a period of 0. 8-21.9 years. In patients in whom increased values of liver enzymes were found, serological markers for infectious hepatitis, serum hepatitis C virus RNA and virus genotype, IgG and IgA antibodies to gliadin and endomysium, coeruloplasmin, copper, alpha(1)-antitrypsin, total proteins and electrophoresis, IgG, IgA, IgM, fibrinogen, prothrombin, alkaline phosphatase, creatine kinase and total and direct bilirubin were also determined. Antinuclear, anti-smooth muscle and anti-liver-kidney microsome antibodies together with antithyroglobulin and anti-thyroid peroxidase antibodies were determined in all patients and in 166 age-matched female controls. In 22 patients, increased liver enzymes were observed, not related to karyotype. Follow-up showed that the hepatic disorder did not worsen with the time. Serological markers of hepatitis C virus were positive in three patients. When the serum liver enzyme increase was first observed in the other 19 patients with high enzyme levels (group A), 14 patients had never been submitted to hormonal treatment, 4 were on oestrogen/gestagen treatment and 1 was being treated with both growth hormone and oestrogen. Coeliac disease, alpha(1)-antitrypsin deficiency and Wilson disease were ruled out by appropriate investigations. In 8/19 group A patients, antinuclear and/or anti-smooth 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 Turner girls with liver enzyme increase. Ultrasonography, performed in 17 patients 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. Oestrogen should not be considered the main cause of increased liver enzymes in Turner syndrome since most of our patients with this finding had not been 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.
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There is no evidence of liver toxicity from E2 treatment.
“No evidence of liver toxicity”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [348]
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Schoemaker, M. J., Swerdlow, A. J., Higgins, C. D., Wright, A. F., & Jacobs, P. A. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-1049 · Cited by 360 · see citing works
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
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Roulot, D. M. (2012) · Liver International · doi:10.1111/liv.12007 · Cited by 95 · see citing works
“Excess weight and oestrogen replacement therapy have both been proposed to cause the elevation of liver enzymes (3, 4).”
BackgroundUse of Percutaneous Estrogen Gel for Induction of Puberty in Girls with Turner Syndrome
Piippo, S., Lenko, H. L., Kainulainen, P., & Sipilä, I. (2004) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2003-032069 · Cited by 79 · see citing works
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“Abnormalities of liver function tests may be found in approximately 15–20% of girls [57,58] and 40% of women with TS [59].”
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Self-citationTurner syndrome in childhood and adolescence
Batch, J. (2002) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1053/beem.2002.0217 · Cited by 42 · see citing works
Calanchini, M., Moolla, A., Tomlinson, J. W., Cobbold, J. F., Grossman, A., Fabbri, A., & Turner, H. E. (2018) · Clinical Endocrinology · doi:10.1111/cen.13811 · Cited by 41 · see citing works
“4% of women, and in this group the median (range) LFT results were ALT 63 (11-286) UI/L, AST 43 (18-157) UI/L, FIB-4 0.”
BackgroundOrgan Abnormalities Caused by Turner Syndrome
Yoon, S. H., Kim, G. Y., Choi, G. T., & Tae, J. (2023) · Cells · doi:10.3390/cells12101365 · Cited by 41 · see citing works
“Excessive body weight is a common cause of liver disease in patients with TS [99,100].”
BackgroundReview of Hormone Replacement Therapy in Girls and Adolescents with Hypogonadism
Klein, K. O., & Phillips, S. A. (2019) · Journal of Pediatric and Adolescent Gynecology · doi:10.1016/j.jpag.2019.04.010 · Cited by 27 · see citing works
The Almost-Normal Liver Biopsy
Czeczok, T. W., Arnam, J. S. V., Wood, L. D., et al. (2017) · The American Journal of Surgical Pathology · doi:10.1097/pas.0000000000000881 · Cited by 24 · see citing works
“5) 4 (50) 3 (38) 1 (14) 1 (33) 2 (67) 4 (50) 5 (63) 6 (86) 2 (67) 1 (33) Biopsy indication 6 (75) 7 (88) 5 (71) 3 (100) 3 (100) 1 (13) 0 1 (14) 0 0 0 1 (13) 0 0 0 0 1 (13) 1 (14) 0 0 1 (13) 0 0 0 1 (33) 0 0 0 0 0 0 0 1 (14) 0 0 0 1 (13) 0 0 0 LFTs at follow-up 2 (25) 0 3 (43) 1 (33) 1 (33) 1 (13) 1 (13) 0 0 0 3 (38) 5…”
Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?
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Healthcare for Adolescents with Turner Syndrome
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“Liver function enzymes were followed every 6 months by Larizza et al, and elevated enzymes were generally found not to be progressive when checked at that frequency.(63)”
MethodHepatic abnormalities in youth with Turner syndrome
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Primary Biliary Cirrhosis in A Patient with Turner Syndrome
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“Antithyroid antibodies are found in approximately 40% of patients with TS and more commonly in those who also have abnormal liver biochemistry (10).”
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“The prevalence of liver function abnormalities ranges from 20 to 80 % [3, 4], and a few reports have described severe consequences of the liver involvement [5].”
BackgroundThrombophilic screening in Turner syndrome.
Calcaterra, V., Gamba, G., Montani, N., Silvestri, A. D., Terulla, V., Lanati, G., & Larizza, D. (2011) · PubMed · doi:10.3275/7724 · Cited by 17 · see citing works
Self-citationLiver biochemical abnormalities in adolescent patients with Turner syndrome
Wójcik, M., Ruszała, A., Januś, D., & Starzyk, J. B. (2019) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.galenos.2019.2018.0271 · Cited by 13 · see citing works
“The literature suggests the possible participation of obesity and HRT by analogy to the results of research conducted in various groups of patients (4).”
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“Liver abnormalities among TS patients such as the elevation of aminotransferases, GGT and ALP [152], are detected mostly throughout systematic blood testing at asymptomatic stage.”
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“Excess weight and estrogen replacement therapy have both been suggested to cause elevation of liver enzymes [ 2 ,3].”
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“Obesity, which is a characteristic feature of girls with TS [23], is discussed as one of the causes of liver involvement [24-27] in TS which could be presented by elevated liver enzyme levels.”
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Hepatic Enzyme Abnormalities in Turner Syndrome: A Case Report
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Vena portae obstruction as a cause of portal hypertension in a child with Turner syndrome
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Machlab, S., Miquel, M., Voltà, T., Escoda, M. R., & Vergara, M. (2018) · Gastroenterología y Hepatología (English Edition) · doi:10.1016/j.gastre.2018.05.005 · Cited by 1 · see citing works
Syndrome de Turner et fonction hépatique chez l’enfant et l’adolescente
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Gastrointestinal and Hepatic Issues in Women with Turner Syndrome
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Conduite à tenir devant une cytolyse chronique
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Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
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Estrogen Replacement in Turner Syndrome
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“of patients with TS and more commonly in those who also have abnormal liver biochemistry [10].”
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Systemic immune-inflammatory indices are associated with liver dysfunction in Turner syndromePreprint
Feigerlová, E., Zaegel, N., Brahimaj, R., Battaglia-Hsu, S.-F., Lamiral, Z., & Feigerlová, E. (2022) · Research Square · doi:10.21203/rs.3.rs-2263839/v1
Turner syndrome with isochromosome Xq as a cause of granulomatous hepatitis: a case report
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Growth Hormone Therapy in Children with Turner Syndrome, Noonan Syndrome, and SHOX Gene Mutations
Gutmark‐Little, I., Muthuvel, G., & Backeljauw, P. F. (2024) · Springer eBooks · doi:10.1007/978-3-031-66296-6_6
- Authors
- Larizza, D., Locatelli, M., Vitali, L., Viganò, C., Calcaterra, V., Tinelli, C., Sommaruga, M. G., Bozzini, A., Campani, R., & Severi, F.
- Affiliations
- University of Pavia (IT)
- Policlinico San Matteo Fondazione (IT)
- Venue
- European Journal of Pediatrics
- Published
- 2000-02-09
- Volume
- 159
- Issue
- 3
- Pages
- 143-148
- ISSN
- 0340-6199 (ISSN-L)
- 1432-1076
- OpenAlex
- W1998020827
- Cited by
- 51
- References
- 0
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 1 · 2022: 4 · 2021: 1 · 2020: 3 · 2019: 2 · 2018: 4 · 2017: 4 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 1 · 2012: 1
- FWCI
- 0.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Pediatrics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Health Sciences › Medicine › Gastroenterology › Celiac Disease Research and Management
- Health Sciences › Medicine › Hepatology › Liver Diseases and Immunity
- Keywords
- Turner syndrome, liver enzymes, elevated liver enzymes, hepatitis C virus, antinuclear antibodies, anti-smooth muscle antibodies, thyroid autoantibodies, estrogen therapy, hepatomegaly, hepatic steatosis, overweight, autoimmune liver disease, alpha-1 antitrypsin deficiency, Wilson's disease, celiac disease, growth hormone therapy
- MeSH terms
- Adolescent, Adult, Alanine Transaminase, Antibodies, Antinuclear, Aspartate Aminotransferases, Body Weight, Child, Child, Preschool, Female, gamma-Glutamyltransferase, Humans, Infant, Liver, Retrospective Studies, Turner Syndrome
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