Endocrine Abstracts

Introduction: Women with Turner syndrome (TS) have an increased risk of diabetes mellitus (DM) the pathogenesis of which is not well understood. International guidelines for TS recommend oral glucose tolerance tests (OGTT) but the utility of this test has not been determined. We sought to establish the rate of IGT and DM and characterise the DM-phenotype in adult women with TS.Methods: We performed OGTTs in 37 adults with TS and obtained an additional fa...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.</p...

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 ...

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...

ObjectivePrevious studies have documented poor fertility results in women with hypopituitarism (HP) both in terms of pregnancy rates and outcomes. We aimed to assess ovulation induction (OI) and pregnancy outcomes in women with HP compared to women with hypogonadotrophic hypogonadism (HH) treated at University College London Hospitals.DesignA retrospective study.Patients<p class="ab...

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 ...

Background: Treatment of CAH in childhood focuses on growth and development; however the impact of final height (FH) on adult health is not known. We examined the relationship between FH, adiposity, cardiometabolic risk and quality of life (QoL) in a cohort of adult patients.Methods: Cross-sectional analysis of 199 adults with CAH. FH, waist circumference (WC) and QoL were expressed as z-scores adjusted for mid-parental target height (FHTH<...