Endocrine Abstracts

Introduction: Elevated liver function tests (↑LFTs) are frequent in Turner’s syndrome (TS), with a prevalence between 20 and 80%, and increases with age. Their pathogenesis and clinical significance is unclear.Objectives: To study the prevalence of ↑LFTs and their relationship with karyotype, anthropometric, metabolic and TS-related conditions: 68 TS women, average age 39 years (range 18–61 years), were reviewed.<p class="abstex...

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...

Women with Turner Syndrome (TS) are at significantly increased risk of aortic dilation and dissection. However, predicting the risk of aortic dissection (AoD) is difficult with many women attending annual appointments with time, travel and parking costs and resource implications. We developed a risk-based pathway based on the international guidelines, enabling closer follow up for those with a greater risk and reduce the frequency of appointments for those at the least risk.</...

Turner syndrome is a common chromosomal disorder affecting 1 in 2500 life female births. Turner syndrome is associated with congenital cardiovascular malformations of the aortic arch, systemic and pulmonary venous return with reported incidences ranging from 23 to 45%. These vascular malformations cause significant morbidity and mortality with increased incidence of aortic pathology, right heart strain and pulmonary hypertension as a result. In this investigation we retrospect...

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...

Introduction: Long-term increased morbidity and mortality in Turner Syndrome (TS) due to vascular disease is recognized, and suggested risk factors include metabolic parameters and possible change in haemostasis, however elevated red cell parameters in women with TS have not previously been noted.Methods: Following an observation of unexplained occurrence of elevated hemoglobin, a quality improvement-project was conducted to retrospectively review full b...

Introduction: Abnormalities in liver biochemistry are frequent in Turner’s syndrome (TS) with a reported prevalence between 20 and 80%. While their aetiology remains unclear, metabolic factors and intrahepatic biliary disease have been postulated. Moreover, some TS patients have a predominantly cholestatic biochemical abnormality and others a hepatitic picture. Ursodeoxycholic acid (UDCA) has been shown to be a useful treatment of cholestatic disease.<p class="abstext...

Introduction: Women with Turner syndrome (TS) have an increased risk of aortic dissection. Aortic dilatation, bicuspid aortic valve (BAV) and hypertension confer increased risk of dissection. However, only some women with these risk factors develop dissection, and others with no risk markers may dissect. Knowledge of the development of the aortopathy over time is limited. We investigate aortic dimension changes in unselected adult TS and associations between aortic growth and ...

Introduction: Elongated transverse aortic arch (ETA) has recently been described as the commonest abnormality (≅50%) in Turner syndrome (TS), exceeding the prevalence of bicuspid aortic valve (BAV; 10–30%) and aortic coarctation (CoA; 7–18%). Nevertheless only few studies focused on ETA. ETA was associated with BAV, CoA, 45,X and aortic dilatation.Aim: To evaluate the prevalence and associations of ETA in adult TS, unselected for cardiova...

Introduction: Abnormal liver function tests (↑LFTs) are frequently observed in Turner’s syndrome (TS), although the aetiology is unclear. Obesity is reported as one of the causes; recently an increased prevalence of elevated GGT was found in TS patients with a ring X karyotype.Aim: To analyse the association between abnormal LFTs and TS-related conditions, and in particular their relationship with the different TS-karyotypes.<p class="abst...