Endocrine Abstracts

Objectives: DMD Care UK (www.dmdcareuk.org) is a national project initiated and funded by Duchenne UK in collaboration with Newcastle University and the UK North Star clinical network. The main aim is to facilitate implementation of care standards across the UK national health system. In 2021, DMD Care UK conducted a comprehensive online family survey of all aspects of care of boys with DMD with the aim of capturing the patients experienc...

Background: Girls and women with Turner Syndrome (TS) are commonly estrogen deficient, and may also be affected by conditions that have been suggested as increasing risk for severe infection with COVID.Objective: To determine the self-reported experience of COVID19 in girls/women with Turner syndromeDesign: Anonymous self-completed website survey (UK TSSS) and analysis of submitted dataPopulation: 49 people; ...

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...

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...

Holistic care for NEN patients:: Holistic care is a ‘gold-standard’ model, defined as that which treats the whole person. A key factor to ensure that all the cogs in the NEN pathway work collaboratively, towards this goal, is to ensure that we are all listening to the perspective of the person living with NEN and that we focus conversations on Quality of Life: what it means to each individual and how we can, together, best help them manage and live well with their il...

Leri-Weill Dyschondrosteosis (LWD) is a skeletal dysplasia resulting in short stature and mesomelic limb-shortening; Madelung deformity of the wrist is often present. Mutation or deletion of the SHOX gene is the underlying cause of LWD. SHOX plays a role in regulating proliferation and maturation of chondrocytes. It is located in the pseudoautosomal region of the sex chromosomes (Xp22.3/Yp11.3); males and females usually have 2 functioning copies. Turner synd...

Background: Despite new, albeit draft, international guidelines there remains limited data and guidance on the non-cardiac obstetric management and outcomes in women with Turner Syndrome (TS).AIMS: This retrospective single centre audit aimed to assess the maternal and fetal outcomes in a large single centre cohort.METHODS: We identified 110 women under our care with TS. Of these, 28 women had attempted to achiev...

Background: Limited contemporary data exist with which to counsel women with Turner Syndrome (TS) with regards to risks associated with pregnancy. We conducted a multicentre UK retrospective cohort study to determine the characteristics and outcomes of pregnancy in women with TS.Method: Retrospective cohort 20-year (2000-2020) study including 16 UK tertiary referral maternity units. Data were collated from case notes review, and maternal outcomes, obstet...

Background: Despite new, albeit draft, international guidelines there remains limited data and guidance on the non-cardiac obstetric management and outcomes in women with Turner Syndrome (TS).AIMS: This retrospective single centre audit aimed to assess the maternal and fetal outcomes in a large single centre cohort.METHODS: We identified 110 women under our care with TS. Of these, 28 women had attempted to achiev...

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...