Endocrine Abstracts

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 ...

Immune checkpoint inhibitors are a new group of monoclonal antibodies against checkpoints in normal T Lymphocyte activation enabling immune system activation in order to target cancer cells. First used for treatment of melanoma in 2011, they are currently indicated for management of an increasing spectrum of malignancy. Endocrinopathy secondary to checkpoint inhibitors is commonly observed. This has led to a new group of patients requiring specialist investigation, management,...

On a background of an increasing number of Nurse-Led Clinics and Endocrine Specialist nurses taking on many varying extended roles and responsibilities, 2015 has seen several important developments in the medicolegal aspects of practice.Nurse-led endocrine clinics often develop ad ho, and whilst there is very helpful guidance available (a Royal College of Nursing accredited Competency Framework developed by the Society for Endocrinology, and the new 2015...

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; ...

Case history: At 1 year follow-up post excision of invasive melanoma, a 63-year-old gentleman, with no other significant past medical history, was found to have CT evidence of metastatic disease. In the absence of a BRAF mutation, he was consented for combination immunotherapy with Ipilimumab (anti-CTLA4) and Nivolumab (anti-PD1). Monitoring bloods during cycle 2 of treatment revealed asymptomatic thyroiditis (TSH 0.03 miu/l, T4 35.5 pmol/l, T3 15.1 pmol/l), which did not requ...

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...

Aim: To assess whether patients on glucocorticoids understand how to manage their medication in the event of intercurrent illness.Background: Studies have shown that, after as little as two weeks of glucocorticoid treatment, 10% of patients have adrenal suppression and it can take one year or longer for adrenal function to recover. With 7 out of 1000 people in the general population prescribed glucocorticoids, there is a large group at risk of adrenal cr...

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...

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...