Endocrine Abstracts

Women with Turner Syndrome (TS) are at significantly increased risk of aortic dilation and dissection. However, predicting the risk of aortic dissection (AoD) is difficult with many women attending annual appointments with time, travel and parking costs and resource implications. We developed a risk-based pathway based on the international guidelines, enabling closer follow up for those with a greater risk and reduce the frequency of appointments for those at the least risk.</...

Background: We have previously reported abnormal liver function tests (LFTs), FIB-4 scores and liver stiffness measurements (LSM, Fibroscan) in patients with Turner syndrome (TS), but longitudinal data defining the impact of TS on liver phenotype are limited.Methods: We undertook a retrospective longitudinal follow-up audit (OUH; 8348) of 24 women with TS who had abnormal LFTs and underwent at least 2 assessments (median...

Myasthenia gravis (MG) and Graves’ ophthalmopathy (GO) share many clinical characteristics but may also co-exist. Both are autoimmune disorders mediated by organ specific pathogenic autoantibodies to membrane surface receptors. Differential diagnosis and/or co-existence provides a potential management challenge, and there is a paucity of demographic information regarding precise prevalence rates and concurrence of disease.Method: Re...

Background: Thyroid eye disease (TED) affects 25% of patients with Graves’ disease (GD). GD affects nearly 1% of pregnancies. However, data on TED incidence, course, management and outcome in pregnancy are limited.Aims: To describe the prevalence, course and outcomes of TED in pregnant females.Methods: A retrospective analysis of electronic health records was conducted in a sp...

Background: Previous population studies suggest cancer morbidity is different in Turner syndrome (TS) compared to the background female population. Whilst gonadoblastoma is well recognized in TS with Y chromosome material, studies have suggested increased prevalence of skin tumours and meningioma but reduced incidence of breast cancer.Methods: Retrospective analysis of an adult TS clinic patient database identified women who developed cancer. Tumour type...

Introduction: Anaemia and other haematological disorders have been reported in Turner Syndrome (TS). TS-related comorbidities (premature ovarian insufficiency, autoimmune hypothyroidism, coeliac disease and liver diseases) and treatments (hormone replacement [HRT] and growth hormone) are possible explanations. We aim to investigate the prevalence of abnormal full blood count (FBC) in adult TS and assess associated clinical characteristics.Methods: FBC pa...

Purpose: Graves’ disease is an autoimmune condition that can cause hyperthyroidism and thyroid eye disease (TED). Definitive treatment is required in approximately 50% patients. Thyroidectomy remains the least chosen primary treatment (2%-18%) despite it having the highest cure rate (>95%). Our aim was to determine the current relationship between patients’ TED and thyroidectomy in a multidisciplinary specialist eye clinic at a tertiary referral centre.<p cla...

Generally, after an initial active phase TED rarely reactivates. However, epidemiological evidence is scant. The following cases highlight the propensity for Graves’ orbitopathy to reactivate many years later.Case 1: A 69-year-old woman had Graves’ disease aged 29, and was reviewed in the TED clinic (ophthalmology, rheumatology and endocrinology), with reactivation of orbitopathy 40 years after initial disease. She was an ex-smoker, had hyperte...

Turner syndrome is a common chromosomal disorder affecting 1 in 2500 life female births. Turner syndrome is associated with congenital cardiovascular malformations of the aortic arch, systemic and pulmonary venous return with reported incidences ranging from 23 to 45%. These vascular malformations cause significant morbidity and mortality with increased incidence of aortic pathology, right heart strain and pulmonary hypertension as a result. In this investigation we retrospect...

Introduction: Abnormal liver function tests (↑LFTs) are frequently observed in Turner’s syndrome (TS), although the aetiology is unclear. Obesity is reported as one of the causes; recently an increased prevalence of elevated GGT was found in TS patients with a ring X karyotype.Aim: To analyse the association between abnormal LFTs and TS-related conditions, and in particular their relationship with the different TS-karyotypes.<p class="abst...