Clinical practice guidelines for the care of girls and women with TS were published after the International TS Meeting in Cincinnati. The European Society of Human Reproduction and Embryology has developed clinical practice guidelines for the management of women with POI. Recent attention has focused on sex hormone replacement in POI. Cardiovascular disease is particularly important and includes problems such as hypertension, atheroma and aortic dissection (especially in girls with previously repaired aortic coarctation or biscupid aortic valve ), and risk of metabolic syndrome. TS has long-term health consequences with a significant increase in morbidity and mortality. Estrogen induction of puberty is usually required in TS, a retrospective Italian study showing that only 84 of 522 (16.1%) patients achieved spontaneous menarche. 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.Ĭardinal features of Turner syndrome (TS) include short stature and primary ovarian insufficiency (POI), accompanied by typical phenotypic traits and a variety of associated cardiac and renal malformations in a minority. 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. The primary outcome measure chosen is height gain during the induction period. We hypothesise that pubertal induction with transdermal estradiol will result in better outcomes for some key parameters. 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. Prerequisites include suitable 17β-estradiol tablets and matrix patches to allow the delivery of incremental doses based on body weight. 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. 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. However, no adequately powered prospective studies comparing transdermal with oral 17β-estradiol administration exist.
Background: Most girls with Turner syndrome (TS) require pubertal induction with estrogen, followed by long term replacement.
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