Endocrine Abstracts

Steroid-dependent individuals, in particular those with primary adrenal insufficiency, are a vulnerable patient group. They are prone to acute adrenal crisis which is a life-threatening medical emergency requiring immediate recognition and treatment. Among individuals with primary adrenal insufficiency, acute adrenal crisis has a frequency of 6–8 per 100 patient-years. Unfortunately, delays in diagnosis and management are common, constituting an avoidable source of patien...

Steroid-dependent individuals, in particular those with primary adrenal insufficiency, are a vulnerable patient group. They are prone to acute adrenal crisis which is a life-threatening medical emergency requiring immediate recognition and treatment. Among individuals with primary adrenal insufficiency, acute adrenal crisis has a frequency of 6–8 per 100 patient-years. Unfortunately, delays in diagnosis and management are common, constituting an avoidable source of patien...

: Lymphoma is one of the rare causes of bilateral adrenal gland enlargement that require a high index of suspicion for diagnosis. We present a case of 80-year-old lady referred by her GP for further evaluation after presenting with lower abdominal discomfort and weight loss for which she had a CT scan that revealed bilateral adrenal gland masses (60 HU) with the right adrenal gland measures 61 mm in diameter with distal ileal thickness and regional lymphadenopathy. She has no ...

In recent years, the integrated clinical academic pathway has made a previously seemingly chaotic career pathway far more organised. This is now a well-trodden path; for those interested in research, there are opportunities to join this pathway at every stage, from academic foundation programmes through to fellowships aimed at those post-CCT. Combining clinical training in endocrinology (and not forgetting diabetes and general internal medicine too) with research, whether basi...

Background: Hyperandrogenism in congenital adrenal hyperplasia (CAH) is associated with virilisation in female patients and subfertility in both male and female patients. However, little is known regarding the association of hyperandrogenaemia with polycythaemia. We evaluate the association between the adrenal hormone profile and haematocrit (HCT)/haemoglobin (Hb) in a cohort of patients with classical CAH.Methods: Single centre retrospective analysis of...

A male with classical salt-wasting congenital adrenal hyperplasia (CAH; 21-hydroxylase deficiency) who was diagnosed in infancy and had normal pubertal growth and development attended the endocrine department for routine follow up in June 2019 (age 26). His current daily medications are hydrocortisone 10 mg on waking, 5 mg at 4 pm and fludrocortisone 200 mg once daily. He also has injectable hydrocortisone sodium phosphate 100mg for emergency use. Over recent years, he reports...

Background: HLA-DRB1*04 is one of the MHC alleles which is associated with several autoimmune endocrinopathies, including autoimmune Addison’s disease (AAD). The two versions of the gene which encodes the main target of the autoimmune attack in AAD, steroid 21-hydroxylase, are encoded in a gene cluster, called RCCX module, which is a copy number variation located in the MHC class III locus. Previous data from our group showed that AAD patients are more likely to have no c...

Objective: The SH2B3 gene encodes the src homology-2B adaptor protein 3, also known as lymphocyte adaptor protein (LNK), and is a negative regulator of T lymphocyte activation and the cytokine signalling pathways involved in inflammation and haematopoiesis. rs3184504, a non-synonymous SNP (R262W) in exon 3 of the SH2B3 gene, has been associated with numerous autoimmune conditions including type 1 diabetes, rheumatoid arthritis and coeliac disease. Th...

Background: Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder, affecting 1 in 18 000 UK births. The 2010 CaHASE Study identified a myriad of health problems associated with CAH and its treatment, and a lack of consensus on treatment strategies in adults. Endocrine Society guidelines (2010, revised 2018) have since been published to support management. As one of the original CaHASE centres, we have audited our recent practice against these new sta...

A 54-year-old lady presented with malaise, weakness, and constipation. She was found to be mildly hypercalcaemia (adjusted calcium 2.68–2.76 mmol/l; reference range 2.12–2.60 mmol/l) and was referred to local endocrinology services. Her PTH was 79 ng/l (range 10–60) and a diagnosis of primary hyperparathyroidism was made. Imaging to localise a parathyroid source was negative. She was referred to the endocrine surgeons at the Royal Victoria Infirmary, Newcastle, ...