Endocrine Abstracts

Background: The low dose dexamethasone suppression test (LDDST) is an important investigation for suspected Cushing’s syndrome (CS). The traditional definition of normal suppression of serum cortisol to ≤50 nmol/l (0.5 mg 6 hrly × 48 hrs) comes from a time when biochemical auto analysers did not routinely detect very low values. Previous studies reported 5.1–8.3% of patients with Cushing’s disease (CD) suppressed to <50 nmol/l at 48 hrs. Many clin...

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...

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: 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...

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...

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...