Endocrine Abstracts

Mortality is 3 fold higher in patients with Turner syndrome (TS) than in the general population, primarily due to cardiovascular complications. Recent clinical guidelines (Gravholt et al. EJE 2017) underlined the need of a lifelong cardiovascular follow-up. However, prospective studies evaluating the aortic natural history in clinical practice are scarce. We performed a monocentric longitudinal study including 204 adult TS patients, between 2005 and 2018. Inclusion criteria we...

Introduction: Reports suggest the karyotype of up to 10% of women with Turner syndrome (TS) includes presence of a Y chromosome. Current guidelines recommend early gonadectomy given the potential risk of gonadoblastoma. However, the evidence basis for this practice is not strong. We aimed to assess pubertal development, clinical features, incidence of gonadoblastoma and long-term outcome including pregnancy in an adult-tertiary care TS clinic.<p class="abs...

Turner Syndrome (TS) affects 1:2500 females and is caused by the partial or complete loss of one X chromosome. About 80% of women with TS experience primary amenorrhea and therefore the only option for fertility treatment is ovum donation (OD). The remaining 20% may have the opportunity for a spontaneous pregnancy. Pregnancy in women with TS has been associated with excess obstetric risk such as miscarriage and hypertension. Maternal mortality has been estimated to be 2% risk ...

Introduction: Cardiovascular disease is the commonest cause of death (absolute-excess-risk:41%) in Turner Syndrome (TS). Hypertension is a major risk for circulatory-disease (up to 60%) and a key modifiable-risk factor of aortopathy, ischemic heart disease and stroke in TS. There is no current consensus for hypertension diagnosis/management in TS.Methods: Retrospective multi-centre observational study of patients aged &#...

Introduction: Hypertension is common in patients with Turner Syndrome (TS), and they appear to have an increased predisposition with various proposed disease related factors; sex hormone imbalance, aortopathy, increased activation of the renin-angiotensin-aldosterone system, insulin resistance, growth hormone deficiency/resistance, adverse imprinting during fetal life and renal malformations. Despite high susceptibility and unique challenges in managing hypertension in this gr...

In this session, the adult aspects of Turner syndrome are addressed following the new Clinical Practice Guidelines for Turner syndrome. The presentation includes both theoretical backgrounds and practical recommendations. Fertility preservation is discussed and the results of our GRADE evaluation according to the outcome of oocyte donation is presented. New insights in health surveillance for co-morbidities are highlighted. Practical tools for transition from pediatric to adul...

Introduction: The risk of maternal death from aortic-dissection(AoD) during pregnancy/post-partum in TS is increased, due to TS-associated risk factors (bicuspid-aortic-valve(BAV), aortic-coarctation, aortic-dilatation, hypertension) and the increased cardiovascular strain of pregnancy itself. TS-guidelines advice against pregnancy in the presence of severe aortic-dilatation or moderate dilatation with AoD-risk factors; and after aortic surgery a high risk remains. However, fe...

Spontaneous pregnancy (SP) in TS is rare (4.8–7.6%). Oocyte-donation-in-vitro-fertilization (IVF-OD) and fertility-preservation increasingly offer the possibility of childbearing. Nevertheless, pregnancy is associated with an increased risk of complications. Adoption/surrogacy represents alternative parenting options.Aim: To analyse parenting options and pregnancy outcomes inTS.Methods: Data was collected in 154 TSwom...

The basics of molecular genetics are reviewed with emphasis on introducing terminology frequently encountered in genetic lab results and in lectures focusing on the genetic origins of disease. Mutations thought to be associated with various phenotypical features of Turner syndrome are identified. Specific examples of genetic test results revealing Turner syndrome are reviewed. The new molecular testing available for diagnosing Turner syndrome is presented. Applications to the ...

Women with Turner Syndrome should be followed up at a dedicated clinic which provides multidisciplinary input to offer holistic care. Any young person who has been under the care of a specialised paediatric clinic since early childhood will be anxious about the transition to adult services, and this is particularly so for girls with Turner Syndrome. A consultant-based clinic with familiar staff provides reassurance that one person or team is aware of their health needs and can...