Endocrine Abstracts

Background: Cystic lymphangiomata are rare benign tumours of childhood resulting from an abnormal development of the lymphatic system, most of which occur in the head and axillary region, referred to as cystic hygromas. Lymphangioma arising in the abdomen are particularly rare and the symptoms are variable. They usually affect boys and can be associated with specific genetic abnormalities, most notably Turners syndrome.Case: We report the case of a 14-ye...

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...

Background: Prior to 2014 Portsmouth patients with Turners syndrome (TS) were seen in a variety of endocrine clinics. Screening investigations e.g. cardiac echo, necessitated further appointments. The Turners Syndrome Support Society (TSSS) recommend that ladies should be under the care of a specialist multi-disciplinary TS clinic, equipped to manage the specific medical problems associated with the syndrome.Innovation: Portsmouth Endocrine Department es...

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...

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects and method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008–2017, n=28). Data is median (IQR) or mean±SD as appropriate.Result: The age at diagn...

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...