Endocrine Abstracts

The regulation of aldosterone secretion is altered in essential hypertension: the phenotype of relative aldosterone excess is present in up to 15% of subjects. The gene encoding aldosterone synthase (CYP11B2) offers an obvious candidate to account for this and a polymorphism in its 5′ untranslated region (UTR; −344C/T) is associated with increased frequency of hypertension and higher aldosterone levels. However, this variation is more closely associated with...

Genetic variants consistently associated with the development of Graves’ disease (GD) have, to date, been general autoimmunity loci including those within the HLA region, the CTLA-4 gene and most recently the PTPN22 gene encoding lymphoid tyrosine phosphatase (LYP). The thyrotophin receptor gene (TSHR) has recently however, been identified as the first Graves’ disease specific susceptibility locus. To further refine association with disease and exclude populat...

11beta-Hydroxysteroid dehydrogenase (11beta-HSD) catalyses the interconversion of hormonally active cortisol (F) and inactive cortisone (E). 11beta-HSD1 is an NADP(H) dependent enzyme expressed in human liver and adipose that is targeted to the ER membrane with a lumenal catalytic domain. In vivo the enzyme acts predominantly as a reductase, generating F from E. The inherited condition, Apparent Cortisone Reductase Deficiency (ACRD) is a form of PCOS characterised by ACTH medi...

A 29 year old woman with multiple sclerosis and no history of thyroid dysfunction was referred to endocrinology with T3 thyrotoxicosis (TSH <0.01 mU/l, fT4 20.7 pmol/l, T3 2.9 nmol/l). She had received monoclonal alemtuzumab therapy 9 months prior. This hyperthyroid phase was short lived and in the absence of anti-thyroid medication developed symptomatic hypothyroidism within 2 months of referral (TSH 52.9 mU/l, T4 <5 pmol/l, T3 0.8 nmol/l). Thyroid receptor antibodies...

Kennedy’s Disease (KD) or Spinal and Bulbar Muscle Atrophy is a rare X-linked recessive condition due to CAG repeat in the androgen receptor (AR) gene. KD affects males with unaffected female carriers. Reported prevalence in male populations is highly variable; recent data suggests 2.5 in 100,000 with region specific higher prevalence. KD manifests as androgen insensitivity (AI) with features including gynaecomastia and motor signs such as early tremor, facial an...

Introduction: The COVID-19 pandemic prevented face-to-face school diabetes training in 2020/2021 at Birmingham Women’s and Children’s Hospital. Moving school training online was the only viable option to ensure children with type 1 diabetes could attend school.Objectives: 1. Develop an online school training package with competency assessment for all diabetes devices 2. Audit the number of staff competent and the cost and acceptability of the t...

Introduction: Achieving an HbA1c of less than 48 mmol/mol minimises the risk of complications in children and young people with type one diabetes. Elective admissions to hospital are one option employed to improve glycaemic control in patients with an HbA1c above target. There is however limited evidence to support such admissions. We aimed to retrospectively compare glycaemic control between patients electively admitted to hospital to stabilise their dia...

Introduction: Ongoing structured education for children and young people with type 1 diabetes and their families is considered essential by ISPAD (2014) and NICE (2015), because there is a lot of education and skills that need to be reinforced.In 2016 the majority of the self-management education was provided at our trust by diabetes self-management education (DSME) sessions, which are two hour sessions designed to improve self-management. This format of...

Case report: A 52-year-old woman developed painful anterior neck swelling seven days after receiving the first COVID-19 vaccine AstraZeneca (AZ). Investigations showed TSH 0.14 mIU/l, CRP 34 mg/l and TRAb 0.3 IU/l. A neck Doppler ultrasound scan on day 15 showed features of thyroiditis. On day 21, she was hyperthyroid with TSH <0.02 mIU/l and free T4 70.3 pmol/l. COVID-19 test was negative, and she was advised to start Carbimazole and propranolol but took only the beta-blo...

Background: An 88 year old gentleman was referred to the endocrine team as an inpatient with recurrent episodes of spontaneous hypoglycaemia. These occurred in the early hours of the morning when he was found to be unrousable from sleep. There was no background history of diabetes. He was under the oncology team on this admission with pyrexia post-palliative chemotherapy with trabecitidine. Significant past medical history include metastatic solitar...