Endocrine Abstracts

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...

Section 1: Case history: A 55 year old female patient sought review from her GP due to ongoing fatigue, muscle weakness, scalp hair thinning, weight gain and fluid retention. This had been ongoing for a few months and she was started on HRT. Initially she saw an improvement however her relief from symptoms was short lived. 5 months later she noticed a rash which was described as purpuric. A relative described her as having a “moon face” which prompted further review ...

Introduction: Infants born to mothers with a history of thyroid disease may be at risk of developing neonatal thyrotoxicosis. Although rare, affecting approximately 1% of infants, maternal thyroid disease can have serious consequences including intrauterine death or neonatal death. Maternal Grave’s disease poses significant risk due to trans-placental passage of TRAB.Methods: Mothers with thyroid disease and their subsequent infants were audited ret...

Background: The Wilms’ Tumour-1 (WT1) transcription factor is a critical regulator of embryonic gonadogenesis, but is also expressed by granulosa cells (GCs) in preantral follicles in the ovary after birth. Evidence from animal models suggests an important role for WT1 in regulating GC steroidogenesis and apoptosis. However, the role of WT1 in human GC biology has not been extensively explored.Aim: To investigate the role of WT1 in regulating human ...

Aims: We sought to audit our practice with the primary aim of improving diabetes service provision to our outpatients. Secondary Aims included developing a teaching document for junior doctors in OPD.Methodology: A retrospective audit of patient charts from monthly diabetes clinics from August to November inclusive examining our adherence to ISPAD Clinical Practice Consensus Guidelines 2014 as endorsed by BSPED.Findings: We audited...

Introduction: Starvation ketosis outside pregnancy is a rare phenomenon and is unlikely to cause a severe acidosis. Pregnancy is an insulin resistant state due to placental production of hormones including glucagon and human placental lactogen. Insulin resistance increases with advancing gestation and this confers a susceptibility to ketosis, particularly in the third trimester. Starvation ketoacidosis in pregnancy has been reported and is usually precipitated by a period of s...

Introduction: The International Diabetes Federation 2019 Diabetes Atlas states that the UK has the highest number of children and young people aged 0–14 with Type 1 Diabetes in Europe, with the incidence of cases observed to be rising on a national and international level. The National Paediatric Diabetes Audit (NPDA) 2020–2021 report identified countrywide inequalities between measures of diabetic health and treatment devices used within the paediat...

Case history: A 30-year-old female was investigated and treated for hypercalcaemia during the third trimester of pregnancy. She has a background of rheumatoid arthritis on hydroxychloroquine and was reviewed by the rheumatologists during her pregnancy due to worsening limb and back pain. She had multiple calcium levels monitored during her pregnancy. Her calcium had been elevated since 2022 but had increased further during the pregnancy and it wasn’t until she was referre...

A 58-year-old gentleman who was otherwise well presented with urinary symptoms. As part of his investigation for this he underwent a CT scan which showed an incidental 6 cm right adrenal mass compressing the inferior vena cava and superior pole of the right kidney with a 6-mm pulmonary nodule. He was subsequently found to have a raised urinary normetanephrine of 48.81 (normal range 0–3.3) suggestive that the mass was a pheochromocytoma. Retrospectively he reported episode...

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...