Endocrine Abstracts

Aims: Elevated liver function tests (↑LFTs) are frequent in Turner’s Syndrome (TS). The cause and clinical significance are unclear. The aim of this study was to analyse the association between ↑LFTs and a comprehensive panel of TS-related conditions, focusing on metabolic and cardiovascular diseases in order to further elucidate the pathophysiological mechanisms underlying this condition.Methods: We reviewed our adult TS cohort. LFTs we...

Aims: Spontaneous pregnancy (SP) in Turner’s syndrome (TS) has been reported, with a prevalence of 2 to 7%. The aim of this study was to evaluate the prevalence and the outcome from spontaneous pregnancies (SPs) in a cohort of women with TS from a single centre, in order to give realistic counselling regarding options for fertility.Methods: We considered the following data: karyotype, age at diagnosis of TS, age at the time of the study, cardiac, an...

Introduction: Liver involvement is frequent in Turner syndrome (TS) with a reported prevalence of abnormal liver function tests (LFTs) ranging 20–80%. Marked architectural changes and cirrhosis may be found in TS-women, associated with an increased incidence and risk of mortality.Recent studies and guidelines recommended:– monitoring annually all LFTs (International TS-Guidelines)– to improve d...

Introduction: Turner syndrome (TS) affects 1/1700 female, is due to total/partial lack of an X chromosome and besides short stature and gonadal dysgenesis, is associated with several comorbidities. No defined psychiatric condition has been related to TS. However, several case-reports have appeared in psychiatric literature, and TS is reported to be three times more prevalent in schizophrenia compared with the general female population.Aim: To evaluate th...

Background: Pulmonary-NETs are classified in low-grade typical carcinoid (TC), intermediate-grade atypical carcinoid (AC), and high-grade large cell carcinoma (LCNEC) and small cell carcinoma (SCLC). However, the proportion of pulmonary-NETs with similar histology that behave quite differently is not negligible. Recent studies favour the use of the proliferation marker Ki67.Aim: To evaluate the utility of Ki67 for predicting metastasis in a cohort of pat...

Introduction: The risk of aortic dissection (AoD) is significantly increased (40 per 100,000/y) in women with Turner Syndrome (TS), but the clinical profile and management for those at risk are not well-established. To gain a better understanding, we present the experience of a single centre with multidisciplinary care, including dedicated cardiology, for management of TS in adulthood.Methods: Retrospective case-review of women develop...

Introduction: The risk of aortic dissection (AoD) is significantly increased (40 per 100,000/y) in women with Turner Syndrome (TS), but the clinical profile and management for those at risk are not well-established. To gain a better understanding, we present the experience of a single centre with multidisciplinary care, including dedicated cardiology, for management of TS in adulthood.Methods: Retrospective case-review of women develop...

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...

Background: We have previously reported abnormal liver function tests (LFTs), FIB-4 scores and liver stiffness measurements (LSM, Fibroscan) in patients with Turner syndrome (TS), but longitudinal data defining the impact of TS on liver phenotype are limited.Methods: We undertook a retrospective longitudinal follow-up audit (OUH; 8348) of 24 women with TS who had abnormal LFTs and underwent at least 2 assessments (median...

Background: Previous population studies suggest cancer morbidity is different in Turner syndrome (TS) compared to the background female population. Whilst gonadoblastoma is well recognized in TS with Y chromosome material, studies have suggested increased prevalence of skin tumours and meningioma but reduced incidence of breast cancer.Methods: Retrospective analysis of an adult TS clinic patient database identified women who developed cancer. Tumour type...