Endocrine Abstracts

Introduction: Liver involvement is frequent in Turner’s syndrome (TS). We have shown that 35% TS women have elevated liver function tests (↑LFTs). Most common hepatic changes include steatosis and steatohepatitis; however, progression to advanced fibrosis and cirrhosis is reported. This study assessed a simple noninvasive test for liver fibrosis, FIB-4, which combines standard biochemical values (platelets, ALT, AST) and age in order to evaluate its diagnostic perfo...

Aims: Turner’s syndrome (TS) is associated with bicuspid aortic valve (BAV), ascending aortic dilatation (AD), aortic coarctation, and hypertension. Pregnancy in TS is associated with increased risk of aortic dissection (2%), gestational hypertension, pre-eclampsia and a 2% risk of maternal mortality.This retrospective study aimed to assess the effectiveness of a multidisciplinary team (MDT) comprising endocrinologist, cardiologist and maternal medi...

Aims: Oocyte donation (OD) is increasingly utilised in women with Turner’s syndrome (TS). However, guidelines state TS a ‘relative contraindication’ for pregnancy, due to increased risk of aortic dissection (AD 2%) and maternal mortality (2%). Recent data on OD-related morbidity and mortality in TS has raised further concern. We aimed to analyse cardiovascular risk profiles of TS women undergoing OD and those with spontaneous pregnancy (SP), and determine outcom...

Aims: Women with Turner’s syndrome (TS) are increasingly undertaking pregnancies, either via natural conception (mosaic TS) or assisted conception (AC). Increased TS pregnancies have led to reports suggesting high risk of pregnancy associated aortic dissection (AOD) 2%, and maternal mortality 2% due to underlying aortic valve abnormalities and aortopathies. However, the literature is limited to small case series. We report our practice providing risk-assessment and combin...

Introduction: There is limited literature on autoimmune haematological disorders (AIHD) such as autoimmune thrombocytopenia (ITP), autoimmune haemolytic anaemia, and autoimmune neutropenia (AN) in Turner syndrome (TS) although autoimmune disorders are more common in TS.Methodology: Retrospective analysis of a clinic database, to identify patients with AIHD out of all the patients followed up in a specialised TS clinic. (...

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...