Endocrine Abstracts

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...

Introduction: Turners’ syndrome (TS) affects one in 2500 live births. Multiple comorbidities affect TS patients and recommendations for long-term management advocate annual review with a ‘checklist’ approach. This audit of current practice of a specialist TS clinic aims to identify gaps in patients’ management.Methods: A checklist of recommendations for health screening based on the National Turner’s Syndrome Guidelines was devel...

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...

Background: Turner syndrome has well recognised cardiovascular complications that appear in up to 40% of the patients and are more common in monosomy X. Left sided obstructive lesions are relatively more frequent and predispose to aortic root dilatation and life threatening aortic dissection. Patients with bicuspid aortic valve, hypertension, coarctation and aortic stenosis are at high risk of aortic dilatation and dissection. Various follow up strategies are in use but there ...

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 should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver....

Treatment with 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 should continue during adult years. These issues are normally dealt with by the paediatrician, but once a TS female enters adulthood it is less clear who should be the primary care giver. Morbidity and mo...

VA Thornton-Jones, JAH Wass and HE Turner, OBJECTIVE: Despite a recommended injection frequency of 4 weekly(4w), prolonged duration of GH suppression has been observed in some patients following treatment with long-acting somatostatin analogues. The aim of our study was to perform a prospective systematic study to determine whether extending the interval between doses of Octreotide LAR (LAR) allows maintenance of 'safe' GH in selected patients with acromegaly.<p class="abs...