Metabolic Syndrome in Turner Syndrome and Relation Between Body Composition and Clinical, Genetic, and Ultrasonographic Characteristics

Calcaterra, Valeria; Brambilla, Paola; Maffè, Gabriella Carnevale; Klersy, Catherine; Albertini, Riccardo; Introzzi, Francesca; Bozzola, E.; Bozzola, Mauro; Larizza, Daniela

doi:10.1089/met.2013.0075

Cited by 39 publications

(50 citation statements)

References 40 publications

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“…It has been difficult to address whether hormone-independent effects of gonadal sex occur in humans because, typically, XX chromosomes and ovaries occur together, and XY chromosomes and testes occur together (Figure 2). Some studies of metabolic factors have been performed on individuals with sex chromosome anomalies (Turner syndrome or Klinefelter syndrome), and have reported increased adiposity and other features of MetSyn (13, 14, 19). However, it is difficult to tease apart the role of sex chromosome complement from gonadal hormones in these individuals because the alterations in chromosome complement occur in concert with abnormal hormones levels.…”

Section: Sex and Metabolismmentioning

confidence: 99%

Genetic Basis for Sex Differences in Obesity and Lipid Metabolism

2017

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Men and women exhibit significant differences in obesity, cardiovascular disease and diabetes. To provide better diagnosis and treatment for both sexes, it is important to identify factors that underlie the observed sex differences. Traditionally, sex differences have been attributed to the differential effects of male and female gonadal secretions (commonly referred to as “sex hormones”), which do substantially influence many aspects of metabolism and related diseases. Less appreciated as a contributor to sex differences are the fundamental genetic differences between males and females, which are ultimately determined by the presence of an XX or XY sex chromosome complement. Here we review the mechanisms by which gonadal hormones and sex chromosome complement each contribute to lipid metabolism and associated diseases, and the current approaches that are used to study them. We focus particularly on genetic approaches including genome-wide association studies in humans and mice, “–omics” and “systems genetics” approaches, and unique experimental mouse models that allow distinction between gonadal and sex chromosome effects.

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Section: Sex and Metabolismmentioning

confidence: 99%

Genetic Basis for Sex Differences in Obesity and Lipid Metabolism

2017

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“…Cardiovascular disease is particularly important and includes problems such as hypertension, atheroma and aortic dissection [6-8] (especially in girls with previously repaired aortic coarctation or biscupid aortic valve [9]), and risk of metabolic syndrome [10]. …”

Section: Introductionmentioning

confidence: 99%

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy

et al. 2019

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Background: Most girls with Turner syndrome (TS) require pubertal induction with estrogen, followed by long term replacement. However, no adequately powered prospective studies comparing transdermal with oral 17β-estradiol administration exist. This reflects the difficulty of securing funding to study a rare condition with relatively low morbidity/mortality when competing against conditions such as cancer and vascular disease. Protocol Consensus: The TS Working Group of the European Society for Paediatric Endocrinology (ESPE) has agreed to both a 3-year oral and a 3-year transdermal regimen for pubertal induction. Prerequisites include suitable 17β-estradiol tablets and matrix patches to allow the delivery of incremental doses based on body weight. Study Proposal: An international prospective cohort study with single centre analysis is proposed in which clinicians and families are invited to choose either of the agreed regimens, usually starting at 11 years. We hypothesise that pubertal induction with transdermal estradiol will result in better outcomes for some key parameters. The primary outcome measure chosen is height gain during the induction period. Analysis: Assessment of the demographics and drop-out rates of patients choosing either oral or transdermal preparations; and appropriate analysis of outcomes including pubertal height gain, final height, liver enzyme and lipid profile, adherence/acceptability, cardiovascular health, including systolic and diastolic blood pressure and aortic root diameter and bone health. Conclusion: The proposed model of prospective data collection according to internationally agreed protocols aims to break the current impasse in obtaining evidence-based management for TS and could be applied to other rare paediatric endocrine conditions.

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“…The etiology of dyslipidemia in TS is not well understood. Additional features of TS, such as hypertension, increased visceral adiposity, hyperglycemia and insulin resistance, and endocrine disease, which have all been associated with or postulated to influence atherogenic particles [33], may contribute to an adverse lipid profile. Endocrinopathies associated with TS such as estrogen and thyroid hormone deficiency may contribute to the adverse profiles seen in younger TS patients, and treatment with estrogen and levothyroxine (as well as growth hormone) have been shown to have beneficial effects on lipid profiles [34-36].…”

Section: Discussionmentioning

confidence: 99%

Increased Non-High-Density Lipoprotein Cholesterol in Children and Young Adults with Turner Syndrome Is Not Explained By BMI Alone

et al. 2017

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Background: Turner syndrome (TS) is associated with an increased risk of cardiovascular disease. Non-high-density lipoprotein cholesterol (non-HDL-C) is a convenient measure of atherogenicity (normal concentration <120 mg/dL) but has not been investigated in TS. We aim to evaluate non-HDL-C patterns in a cohort of pediatric and young adult females with TS. Methods: A retrospective chart review was used to obtain demographics, body composition, genetic reports, and lipid profiles in females with TS. Results: Lipid profiles were assessed in 158 females (mean age 13.6 years). Mean non-HDL-C was 118.9 mg/dL (±32.0); the prevalence of high non-HDL-C (≥144 mg/dL) was 17.7% (n = 28). In TS females aged 8–17 years (n = 46), the prevalence of high non-HDL-C was 23.9% (95% CI 11.1–36.7; n = 11) between 2011 and 2012, compared to 9.2% (95% CI 5.6–14.1) in females of the same age in the general population reported in the National Health and Nutrition Examination Survey (NHANES) dataset (p < 0.005). Body mass index (BMI) accounted for only 6% of variance in non-HDL-C values (β coefficient = 1.31, p < 0.05). Conclusions: Children and adolescents aged 8–17 years with TS appear to have a greater prevalence of adverse non-HDL-C levels compared to the general adolescent population. The prevalence of high non-HDL-C was not fully explained by BMI.

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Metabolic Syndrome in Turner Syndrome and Relation Between Body Composition and Clinical, Genetic, and Ultrasonographic Characteristics

Abstract: Prevalence of each component of metabolic syndrome in TS patients is partially influenced by genetic makeup and treatment. Hepatosteatosis was associated with metabolic syndrome and insulin resistance, but not to elevated liver enzymes.

Cited by 39 publications

References 40 publications

Genetic Basis for Sex Differences in Obesity and Lipid Metabolism

Genetic Basis for Sex Differences in Obesity and Lipid Metabolism

Optimal Pubertal Induction in Girls with Turner Syndrome Using Either Oral or Transdermal Estradiol: A Proposed Modern Strategy

Increased Non-High-Density Lipoprotein Cholesterol in Children and Young Adults with Turner Syndrome Is Not Explained By BMI Alone

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