Endocrine Abstracts

Dissection or rupture of the aorta accounts for death in 2-8% of women with Turner Syndrome (TS), and dilatation of the aortic root, has been reported as a predisposing factor. We compared measures of arterial structure, stiffness and endothelial function to investigate whether women with TS have a fundamental arterial wall defect which extends beyond the arch of the aorta. Local Ethics Committee approval was obtained.Age-matched women with TS (n=93), 46...

IntroductionCardiovascular disease, which may be structural or ischaemic, is the major cause of morbidity and mortality for women with Turner Syndrome (TS). This study investigated arterial augmentation index (AI%) and pulse wave velocity (PWV) as measures of arterial stiffness in adults with TS. A more positive AI% and greater PWV indicate increased arterial stiffness.Method66 women with TS and 8 normal wome...

IntroductionCardiovascular disease, which may be structural or ischaemic, is the major cause of morbidity and mortality for women with Turner Syndrome (TS). This study investigated arterial augmentation index (AI%) and pulse wave velocity (PWV) as measures of arterial stiffness in adults with TS. A more positive AI% and greater PWV indicate increased arterial stiffness.Method66 women with TS and 8 normal wome...

In a double-blind study, 106 patients (44 males, 62 females, age 20-64 years) with Addison's disease, were randomised to receive either 50mg of micronised DHEA or placebo orally daily for 12 months. Psychological and biochemical parameters were measured at baseline, 3 to 6 month intervals and post-washout; bone mineral density (BMD) and body composition were assessed by DEXA at baseline and 12 months.DHEAS levels rose significantly and were maintained th...

We examined the results of treatment of adult Cushing's disease by transphenoidal surgery by a single neurosurgeon (MP). Patients with Nelson's syndrome and those who previously had received treatment for Cushing's by a different surgeon were excluded. We reviewed the pituitary database and patient records for all patients operated between 1988 and 2000 with clear pre-operative evidence of Cushing's disease. 117 patients had clear evidence of a pituitary source of excess ACTH....

Introduction: Turner syndrome (TS), defined by the loss of X chromosome material, affecting 1/2500 females born. Associated with TS are a variety of comorbidities such as obesity and fatty liver disease, many of which increase in prevalence with age. The Turner Syndrome Life Course Project at UCLH has collected data on over 800 women over the last 20 years. Annual health surveillance in our adult TS clinic allows for screening for liver enzymes, such as Alanine Transaminase (A...

Due to decreasing ovarian reserve from young age, counselling is vital as chances to conceive spontaneously decrease rapidly and early consideration of fertility options essential. Maternal/fetal-risks are high and patients/specialists face important considerations.Aim: Service-evaluation of adequacy/appropriateness/sufficiency of information about fertility provided to TS patients.Methods: TS women attending two TS-dedicated-centr...

Background: Turner syndrome (TS) comprises a group of sex chromosome anomalies affecting approximately 15,000 in the UK. TS affects every organ system in the body through haploinsufficiency of genes that are normally expressed by both X chromosomes. Common features include short stature, congenital heart diease and gonadal dysgenesis requiring long-term oestrogen replacement but the adult phenotype extends to excess risk of diabetes, hypertension and hepatosteatosis. UCLH has ...

Clinically, glucocorticoids are widely used as a treatment mainly due to their potent anti-inflammatory abilities, however these are associated with several side effects and furthermore some patients go on to develop glucocorticoid resistance. ARID1a mutations have been linked to glucocorticoid resistance and are frequently identified across numerous cancers; therefore it is important to determine the functional role of ARID1a to GR signalling. The ATPase driven SWItch/Sucrose...

Women with Turners Syndrome (TS) have been shown to have reduced bone mineral density (BMD) but there is uncertainty about how this relates to fracture risk. The little data that does exist is conflicting, with one case series finding no difference compared to controls and one survey suggesting an increased risk of fracture particularly of the forearm. Proposed mechanisms for reduced BMD include short stature, oestrogen deficiency and bone dysplasia. In addition, fracture risk...