Endocrine Abstracts

Case History-A 74 year old female patient presented to the emergency department following a witnessed seizure and profound hypoglycaemia (BM 1.1 mmol/l) with an initial GCS of 7/15. Collateral history described 4 days’ feeling unwell with reduced oral intake and multiple recent ‘vacant episodes’. An urgent CT head was unremarkable. Past medical history included hypothyroidism of several years’ duration on T4 50 mcg [3 months’ prior to admission, TSH wa...

Background: Polycystic Ovary Syndrome (PCOS) is characterized as a triad of menstrual irregularities, hyperandrogenism and polycystic ovarian morphology. There is a wide variation in Body Mass Index (BMI) for those fitting PCOS criteria; Identifying differences in relation to Lean BMI patients’ endocrine markers such as LH/FSH ratio and other markers could help identify key areas for improved phenotypic classification. We aimed to focus on a sequential co...

Case history: We present a 61-year-old male with a background history of 47 XYY syndrome who was referred to the endocrine outpatient service with abnormal thyroid function tests. He has mild learning disabilities, asthma, action tremor, erectile dysfunction, and type 2 diabetes. He was tall in stature with obvious clinodactyly. He had been evaluated for his tremor by our Neurology colleagues. Investigations: His blood tests results were as follow- TSH 5...

Section 1: Case history: An 18 year old young man with a background of several years’ ADHD (Attention Deficit Hyperactivity Disorder) and moderate learning disability presented generally unwell, with recent weight loss, abdominal pain, vomiting and poor oral intake in May 2019. He had been unsettled for some time with his mother convinced that his current condition warranted further investigation. When blood tests were done, severe hyponatraemia and hyperkalaemia were fou...

Background: This project endeavoured to improve the quality of endocrinology teaching to clinical medical students through the use of a new multi-stage process.Methods: We created a co-ordinated block containing 4-h teaching sessions (4×1 h) in which eight students in their first clinical year presented answers to questions based on clinical endocrinology cases they had seen and selected. The process started with identification of cases in the out-p...

Background: Cushing’s syndrome derived from paraneoplastic ectopic ACTH production can present in dramatic fashion. We describe such a case that presented with severe hypokalaemia, involving significant diagnostic and management challenges.The case: A 66-year-old female was referred acutely to hospital by her GP after feeling weak and lethargic. She had profound hypokalaemia of 1.5 mmol/l (3.5–5.3) with normal renal function and had been normok...

Introduction: Hyponatraemia is one of the most common electrolyte abnormalities seen in clinical practice [1] and can be caused by a myriad of aetiologies.Aim: To report two cases of severe hyponatraemia caused by different aetiologies.Case report: A 56-year-old male patient was admitted with 2 episodes of tonic-clonic seizures at his care home. The patient had a background of small cell lung cancer and brain metastases in late 202...

Ipilimumab, pembrolizumab, and nivolumab – novel immune checkpoint blockade drugs – are increasingly used in the treatment of metastatic melanoma and other cancers. Ipilimumab is an anti-cytotoxic T-lymphocyte antigen 4 (CTLA4) MAB and the first drug shown to improve overall survival in metastatic melanoma. Hypophysitis is a widely described side-effect linked with both lymphocytic inflammation and a direct toxic effect on the pituitary in mouse studies, but has been...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...

Introduction: Androgen insensitivity syndrome (AIS) is a heterogeneous condition. At the milder end of the clinical spectrum, patients with mild AIS (MAIS) are phenotypically male, and may present with infertility, either isolated or associated with gynaecomastia or signs of mild undervirilization. Most cases of complete and approximately 25% of partial AIS patients harbour mutations in the androgen receptor (AR) gene. Over 1,000 pathogenic variants have been describe...