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      Further Delineation of Liver Involvement in Girls and Women with Turner Syndrome: Case Report of a 2-Year-Old with Liver Dysfunction and Review of Patients Followed in the MassGeneral Hospital Turner Syndrome Clinic

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          Abstract

          Background: Liver function test (LFT) abnormalities, which may reflect underlying pathophysiology, are a well-known feature of Turner syndrome. Less frequently, liver findings may include vascular changes and, rarely, severe liver disease. Although previous studies on children and adolescents suggest a frequency of LFT abnormalities of up to 60%, less is known about the age at onset and natural history. Methods: We report a now 19-year-old young woman with Turner syndrome mosaicism with elevated transaminase levels first detected at the age of 2 years. We also present a retrospective analysis of 179 girls and women followed in the MassGeneral Hospital Turner Syndrome Clinic. Results: In the index case, the severity of liver function test abnormalities fluctuated without complete resolution from 2 to 18 years of age. In the full cohort of 179 patients, when lab results were available, elevated ALT levels occurred in 16 (11%) subjects of all ages, and in 5 (10%) patients ≤18 years of age. Significant and persistent ALT elevations occurred in 2 patients <10 years of age. Conclusion: The updated Clinical Practice Guidelines for the care of girls and women with Turner syndrome recommend annual liver function tests throughout the lifespan, starting at the age of 10 years. Based on our data showing persistent elevation of at least one liver enzyme, we recommend a prospective and more comprehensive study of liver function in younger patients with Turner syndrome. An improved estimate of prevalence could better inform age-adjusted guidelines.

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          Most cited references 5

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          Is Open Access

          Nonalcoholic fatty liver disease: a precursor of the metabolic syndrome.

          The conventional paradigm of nonalcoholic fatty liver disease representing the "hepatic manifestation of the metabolic syndrome" is outdated. We identified and summarized longitudinal studies that, supporting the association of nonalcoholic fatty liver disease with either type 2 diabetes mellitus or metabolic syndrome, suggest that nonalcoholic fatty liver disease precedes the development of both conditions. Online Medical databases were searched, relevant articles were identified, their references were further assessed and tabulated data were checked. Although several cross-sectional studies linked nonalcoholic fatty liver disease to either diabetes and other components of the metabolic syndrome, we focused on 28 longitudinal studies which provided evidence for nonalcoholic fatty liver disease as a risk factor for the future development of diabetes. Moreover, additional 19 longitudinal reported that nonalcoholic fatty liver disease precedes and is a risk factor for the future development of the metabolic syndrome. Finally, molecular and genetic studies are discussed supporting the view that aetiology of steatosis and lipid intra-hepatocytic compartmentation are a major determinant of whether fatty liver is/is not associated with insulin resistance and metabolic syndrome. Data support the novel paradigm of nonalcoholic fatty liver disease as a strong determinant for the development of the metabolic syndrome, which has potentially relevant clinical implications for diagnosing, preventing and treating metabolic syndrome.
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            Turner syndrome and clinical treatment.

            Turner syndrome (TS) is a genetic disorder associated with abnormalities of the X chromosome, occurring in about 50 per 100,000 liveborn girls. TS is usually associated with reduced adult height, gonadal dysgenesis and thus insufficient circulating levels of female sex steroids leading to premature ovarian failure and infertility. The average intellectual performance is within the normal range. New insight into genetics, epidemiology, cardiology, endocrinology and metabolism from a number of recent studies will be included in this review. For this review we concentrated on all papers published on TS with special emphasis on the most recent literature. Also papers relating to cardiology, especially aortic dissection, paediatrics and the effects of estradiol in other conditions were considered. The main source was PubMed and the major endocrinology and cardiology journals. Treatment with growth hormone (GH) during childhood and adolescence allows a considerable gain in adult height. SHOX deficiency explains some of the phenotypic characteristics in TS, principally short stature. Puberty has to be induced in most cases, and female sex hormone replacement therapy (HRT) is given during adult years. Morbidity and mortality is increased, especially due to the risk of dissection of the aorta and other cardiovascular (CV) diseases, as well as the risk of type 2 diabetes, osteoporosis and thyroid disease. The proper dose of HRT with female sex steroids has not been established, and, likewise, benefits and/or drawbacks from HRT have not been thoroughly evaluated. In most countries it seems that the transition period from paediatric to adult care is especially vulnerable and the proper framework for transition has not been established. Today, most treatment recommendations are based on expert opinion and are unfortunately not evidence based, although more areas, such as GH treatment for increasing height, are well founded. The description of adult life with TS has been broadened and medical, social and psychological aspects are being added at a compelling pace. Proper care during adulthood should be studied, since most morbidity potentially is amenable to proper care. Especially, interventional strategy and follow-up with respect to congenital CV malformations, as well as secondary CV disease, have to be developed and new treatment algorithms have to be studied. In summary, TS is a condition associated with a number of diseases and conditions, which need the attention of a multi-disciplinary team.
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              Hypogonadism and non-alcoholic fatty liver disease.

              Non-alcoholic fatty liver disease (NAFLD) is more common in men than in women. Thus, it has been suggested that sex steroids do have a role in the development of NAFLD. The aim of the current paper is to illustrate the association between NAFLD and hypogonadism, by reviewing data derived from both human and animal studies. The prevalence of NAFLD is high in men with hypogonadism, including those with idiopathic hypogonadotropic hypogonadism (IHH), as well as in women in post-menopause, those under estrogen receptor antagonist treatment or women with Turner syndrome. Estrogens seem to play a pivotal role in hepatic lipid homeostasis, as demonstrated in animal models with diminished ovarian estrogens (i.e., ovariectomized mice) and low serum testosterone (T) concentration is independently associated with NAFLD. The elucidation of the exact role of sex steroids in NAFLD pathogenesis would create a unique opportunity to develop novel therapies to tackle NAFLD disease.
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                Author and article information

                Journal
                HRP
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2019
                April 2020
                27 September 2019
                : 92
                : 5
                : 328-334
                Affiliations
                aPediatric Endocrinology, MassGeneral Hospital for Children, Boston, Massachusetts, USA
                bMedical Genetics Unit and MassGeneral Hospital for Children, Boston, Massachusetts, USA
                cPediatric Gastroenterology Hepatology and Nutrition, MassGeneral Hospital for Children, Boston, Massachusetts, USA
                dHarvard College, Boston, Massachusetts, USA
                eDepartment of Medicine, Reproductive Endocrine Unit, MassGeneral Hospital, Boston, Massachusetts, USA
                Author notes
                *Lynne Levitsky, MD, Pediatric Endocrine Unit, Massachusetts General Hospital, Bartlett 410 X, 55 Fruit Street, Boston, MA 02114 (USA), E-Mail llevitsky@partners.org
                Article
                502842 Horm Res Paediatr 2019;92:328–334
                10.1159/000502842
                31563903
                © 2019 S. Karger AG, Basel

                Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Tables: 2, Pages: 7
                Categories
                Novel Insights from Clinical Practice / Case Report

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