Endocrine Abstracts

Background: The use of Dolutegravir (DTG) in the treatment of patients with HIV has been associated with reports of unexpected excess weight gain. The present study aimed to investigate the effect of DTG on the adrenal cortisol levels of HIV patients initiated on antiretroviral therapy (ART).Methods: Adult patients (≥18 years) newly initiated on ART were recruited into two groups (n-100 participants in each group). One group was initiated on a DTG-...

Background: The use of Dolutegravir (DTG) in the treatment of patients with HIV has been associated with reports of unexpected excess weight gain. The present study aimed to investigate the effect of DTG on the adrenal cortisol levels of HIV patients initiated on antiretroviral therapy (ART).Methods: Adult patients (≥18 years) newly initiated on ART were recruited into two groups (n-100 participants in each group). One group was initiated on a DTG-...

Background: Adrenal vein sampling (AVS) is the gold-standard for localizing the site of autonomous aldosterone production in patients with primary aldosteronism (PA). The procedure is technically challenging with a reported success rate of 50-95%.Aim: To audit the success rate of AVS at a regional referral unit.Standards: No set standard exists. 80% success rate was taken as the minimum acceptable standard for a tertiary referral c...

Adrenal Leiomyomas are very rare tumours. 20 cases have been reported to date. Their management remains difficult and challenging. They tend to present with flank or abdominal pain and have very little biochemical activity, if any.Case presentation: We present a case of a young 44 year old female. She was referred to Endocrinology services with a history of 2 weeks abdominal pain. She underwent an ultrasound organised in primary care which was suspicious...

Malignant paraganglioma causing skull metastasis is rare. We describe a 49-year-old male who gives a history of a mass on the vertex of the scalp, noticed a year before presentation and which grew rapidly from 1 cm to 5 cm. His past medical history is significant for hypertension (treated with Amlodipine), and back pain and headache on a regular basis. On MRI the mass measured 5.7 cm craniocaudal, by 7 cm AP and 6.9 cm transverse. Additionally, multiple additional focal areas ...

Phaeochromocytomas show a positive correlation between tumour size, metanephrines level and symptoms. Small tumours (<1 cm) are usually asymptomatic and are picked up through hereditary screening or surveillance of previous tumours. We present a 72-year-old gentleman who was referred to the Endocrinology service with symptoms of palpitations, sweating, dizziness and hypertension for several years. He was investigated for palpitations but no cardiac arrhythmias were present...

One of the most significant health measures implemented during the COVID-19 pandemic has been extended periods of lockdown. Vitamin D is essential for many biological functions including pregnancy and bone health and modulate the immune system. Many studies also suggested a beneficial effect of replenished stores of vitamin D (25(OH)D >50 nmol/l) against severe and long term COVID-19 and self-supplementation is recommended by the government. Here we report on the vitamin D...

A 33 year old man with Williams-Beuren Syndrome (WBS) was admitted following the finding of symptomatic hypercalcaemia (calcium 3.12 mmol/l (2.2-2.6)). Infantile hypercalcaemia is characteristic of WBS, however almost always, calcium levels return to the normal range by ~12 months of age. The patient also had an acute kidney injury (eGFR 39ml/min/1.732, creatinine 178 mmol/l (59-104)), secondary to hypercalcaemia. The patient complained of polydipsia. Past medical h...

Background: Oncogenic osteomalacia is a paraneoplastic syndrome that occurs in the context of an FGF23 secreting tumour. We describe a case of a 42 year old gentleman who presented with this rare cause of hypophosphataemia.Clinical Case: This gentleman presented with a history of multiple fragility fractures, and generalised bone and muscular pain. His biochemistry showed: serum phosphate 0.52 mmol/l (reference range 0.80-1.50 mmol/l), adjusted calcium 2...

Hyponatraemia is the most commonly encountered electrolyte disturbance seen in 15-20% of inpatients. Regardless of severity, hyponatraemia is associated with increased length of stay, morbidity and mortality. We describe a case of a 60-year-old patient admitted with recurrent falls, head injury and hyponatraemia on a background of young-onset Parkinson’s disease with predominant cognitive decline, bladder disturbances and autonomic failure. Following multiple treatments f...

Autotaxin (ATX) is a secreted enzyme that generates the lipid signalling molecule LPAs from LPCs. The ATX/lPA axis is strongly linked to fibrotic diseases and therapeutic inhibitors are in development. Assessing the balance of LPC/lPA in diseased target tissues is critical to inform pharmacokinetics/pharmacodynamics (PK-PD) and predict efficacy of ATX inhibitors in vivo. Mass spectrometry imaging (MSI) allows concomitant measurement of multiple molecules with histopat...

Obesity increases the risk of certain cancers, especially tumours that reside close to adipose tissue (e.g. breast cancers and ovarian metastasis to omentum). Adipose tissue in obesity and tumour micro-environmentsshare a common pathogenic feature, oxygen deprivation (hypoxia, Hx). Here we hypothesised that this hypoxic microenvironment causes changes in key metabolic pathways in adipocytes leading to increased cancer cell growth. To test this, human or mouse breast (BC) and o...

Type 2 diabetes (T2D) affects 1 in 15 people in the U.K, ischaemic damage is predominant and caused by hypoxia. The physiological response to hypoxia is an increase in the transcription factor hypoxia inducible factor (HIF)-1α, which results in reduced oxygen consuming. Previously we have demonstrated that the diabetic heart fails to respond to hypoxia and the aim of this work was to determine if a similar effect was seen in the kidney. HEK293T cells were incubated for 8h...

Impaired glucagon suppression is an overlooked contributor to the transition of prediabetes to type 2 diabetes. We used Graded Glucose Infusion (GGI) to examine the relationship of ISR and Glucagon Secretion Rate (GSR) with rising glucose. We studied 39 non-diabetic, weight-stable individuals (53&pm;2 yrs, 30&pm;1 Kg/M2) categorized by fasting and glucose tolerance status following a 75g OGTT at the time of screening. After an overnight fast, at 07:00 a variable ins...

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at home as a cost-effective alternative...

Aim: To determine if inpatient hypoglycemia management in our trust is compliant with NICE guidelines and understand the conundrums in documentation and treatment of the hypoglycemic episodes.Method: Retrospective audit on all patients admitted in Huddersfield Royal Infirmary who had hypoglycemic episode(s) in March 2021 which were picked up by wireless-enabled central capillary blood glucose monitoring system (cobas)1.R...

Aim: Diagnosis of type 1 diabetes in older adults can be challenging, and management can be complicated by co-morbid conditions. In this study we aimed to compare glycaemic control, microvascular complications and diabetic emergencies (severe hypoglycaemia and diabetic ketoacidosis) in the early years following diagnosis between younger adults (<50) and older adults (≥50).Method: A retrospective cohort study was performed on people with newly d...

Background and Aim: Approximately 1500 people attend the Beacon Health Check Department annually involving a panel of blood tests being screened. Our aim was to compare what percentage of this asymptomatic population have diabetes or were pre-diabetic and what percentage of these were undiagnosed and therefore untreated conditions.Methodology: This audit was a retrospective review of data collected from patients attending the Beacon Hospital Health Check...

Noradrenaline (NE) is a peripheral vasoconstrictor reducing mortality by 11% and major adverse events by two-thirds compared to dopamine [1]. NE acts as an agonist at alpha1 and beta1 receptors, with little-to-no beta2 or alpha2 activity. This vasoconstriction effect can be potent and can result in completely occluded blood vessels more frequently in the peripheries due to lower blood pressure. Septic shock accounts for nearly 1 in 10 admissions to ICU, where it is the most co...

Objective: Clinical management of pituitary cysts remains controversial, especially if asymptomatic. We retrospectively review clinical management and outcome of these patients undergoing long-term follow-up in our pituitary clinic.Methods: All patients with MRI-based diagnosis of pituitary cyst were included. Clinical presentation, cyst size and endocrinopathies (secondary adrenal, thyroid or gonadal deficiency) were compared between surgical and observ...

Objective: Standard Cushing’s disease (CD) treatment is trans-sphenoidal surgery (TSS). However, reported postoperative remission and relapse rates are variable. We have retrospectively analysed clinical outcomes of patients with CD undergoing TSS at our centre.Methods: Patients with CD currently under our long-term endocrine care were included. Diagnosis of CD was made following standard biochemical and radiological investigations. Post-operative r...

Background: Enzalutamide is a next-generation androgen receptor (AR) antagonist, used as a daily oral agent, in the treatment of castration-resistant prostate cancer. Its suppression of 11β-hydroxysteroid dehydrogenase-2 enzyme has been reported in the literature, leading to hypertension through a relative increase in cortisol concentration at the level of the mineralocorticoid receptors. Enzalutamide is also known to be a potent inducer of drug metabolising enzymes (cyto...

Case report: A 55 years old Caucasian gentleman presented with recurrent episodes of unexplained hypoglycaemia with slurred speech, lethargy, myoclonic jerks and seizures. He had background of craniopharyngioma at the age of 17 and underwent surgery but no radiotherapy. Subsequently he was started on hormonal replacement with desmopressin, levothyroxine, hydrocortisone, testosterone and genotrophin and remained stable on treatment for 38 years. Hypoglycaemia work up revealed b...

Langerhans Cell Histiocytosis is an inflammatory myeloid neoplasia caused by mutations of several genes in the MAPKinase (MAPK) pathway which can present in single or multiple sites. Our patient presented to her GP with several months of amenorrhoea, thirst, tiredness and 3 stone weight loss. She was previously fit and well, working, and married with children. Blood tests revealed panhypopituitarism with low 9am cortisol 117 nmol/l (133-537). Oestrogen and gonadotrophins were ...

Nelson syndrome (N S) is the set of symptoms related to a pituitary macroadenoma secreting ACTH developed following a bilateral adrenalectomy (BA). Its frequency is thought to account for up to 40% of adult cushing diseases (CD) who have undergone BA. We report the case of a patient with macroinvasive NS revealed by pituitary apoplexy. Mr M.L aged 35 years, followed for CD with negative imaging evolving for ten years, treated with BA. The evaluation at 03 months post-surgery n...

Women who are obese are more likely to suffer early pregnancy loss. Once factor that can contribute to this is endometrial dysfunction however, we are limited in our understanding of how stressors or treatments, may alter endometrial function. Mimicking the dynamic in vivo exposure of the endometrium to these stressors is difficult using in vitro static culture systems. The aim of this study was to use a microfluidic approach to mimic exposure of the endometr...

Background: Hormone therapy is an important part of transition for many gender nonconforming people and implant treatment is an alternative route of oestrogen administration. We assessed the efficacy of oestrogen implant in transwomen for hormone replacement therapy.Methods: 83 transgender women had 100 mg estradiol implant inserted subcutaneously in the anterior abdominal wall. All subjects graded their energy, drive and libido from a scale of 0 to 10 p...

Anabolic androgenic steroids (AAS) are class C drugs with adverse effects on health. Prevalence is increasing, often with a lack of awareness of the dangers. We present the case of a 33 year-old male with dilated cardiomyopathy and polycythaemia apparently due to AAS abuse over three years. The patient presented with five weeks of increasing breathlessness and chest tightness. Examination revealed evidence of congestive cardiac failure. Chest radiograph showed evidence of pulm...

A 45-year-old lady presented to her GP with sweating, poor memory, and decreased, concentration. Investigations revealed elevated oestradiol at 2204 pmol/l, LH at 28.1 IU/l, and FSH at 15.0 IU/l. This raised the possibility of a Gonadotrophinoma. A preclinic pituitary MRI showed a subtle rounded nodule of tissue within the right side of the anterior pituitary. In clinic, she revealed that she was consuming aloe vera juice for several years to improve her skin and general well-...

A 31 year old female with no prior history of thyroid disease presented to hospital four days after 2nd dose Pfizer vaccination with fever, myalgia, neck discomfort and chest pain; which was relieved by sitting forwards. A small goitre and tachycardia were noted on physical examination. CXR and echocardiogram were normal. ECG revealed sinus tachycardia. Troponin T was elevated (32 ng/l, normal <5). Free T4 was raised (26.6 pmol/l, reference 10-22) with an undetectable TSH ...

Aldosterone and glucocorticoids stimulate sodium transport by the renal tubule, which is important for blood pressure homeostasis. Corticosteroid excess and/or abnormal steroid hormone activity within the kidney can cause hypertension. Circulatory and urinary steroid concentrations can be measured routinely but steroid concentrations at a tissue and cellular level are largely unknown, and the kidney remains a “black box”. Mass spectrometry imaging (MSI) permits local...

Background: In people with HIV on ARV treatment receiving Dolutegravir (DTG)-based regimen, weight and lipodystrophy have been reported.Aim: The aim of this is to evaluate the effect of DTG on the lipid profile and fat distribution on patients who have been switched from a non to a Dolutegravir (DTG)-based regimen on the lipid profile and fat distribution.Methods: One hundred patients above 18yrs of age were recruited into two arms...

Background: Management of large indeterminate adrenal masses detected during pregnancy is challenging due to the risk of malignancy and the obstetric risks of surgical intervention. The spectrum of endocrine-related complications of Covid-19 is expanding. We present a case that highlights the challenging management of a large adrenal mass during pregnancy and draws attention to a rare complication of Covid-19.Case description: 26 yr-old lady presented wi...

Introduction: Adrenal lymphoma and its association with intravascular lymphoma is rare but needs consideration in cases presenting with bilateral adrenal masses and unexplained neurological symptoms. We present two recent cases presenting with multiple cerebral infarcts associated with primary adrenal lymphoma.Case 1: A 67-year-old male was admitted to the stroke unit with symptoms of middle cerebral artery (MCA) stroke. MRI demonstrated multiple infarct...

Case 1: A 73-year-old woman underwent two separate major abdominal surgeries, one month apart, for the management of ovarian endometrioid adenocarcinoma. She had hypotensive crises about 30 minutes into each of the procedures, requiring metaraminol and noradrenaline infusions. Cortisol levels post-surgeries were 99 nmol/l and 23 nmol/l, respectively. Further questioning revealed exogenous steroid use, including high dose inhaled steroids (Fostair-800mcg/daily) and IM steroid i...

• A 54-year old Lithuanian man presented with symptomatic hyperglycaemia and weight loss.• A diagnosis of new onset diabetes type 2 was confirmed for which he received treatment. In addition, his serum potassium remained low despite of intervention.• CXR was done and showed a bulky right sided hilar mass.• The combination of refractory hypokalaemia, hyperglycaemia, and lung cancer suspicio...

Introduction: It has been seen that Zoledronic acid (ZA) infusion induces an acute inflammatory response associated with rise in inflammatory markers and changes in thyroid function tests resembling non thyroidal illness syndrome. It is also postulated that amino group of ZA has a role in causation of these thyroid function abnormality. (1)Material and methods: An observational study at tertiary care hospital of India where thyroid functions tests were s...

Introduction: Causes of hypophosphataemia include reduced intestinal absorption, inadequate intake, transcellular shifts (refeeding syndrome, glucose/insulin infusion), renal loss which is either FGF23 mediated (inherited forms or tumour induced osteomalacia) or non-FGF23 mediated (hyperparathyroidism, drugs)Case report: We present a case of 51 years old female referred to us with multiple fractures during her half marathon. She suffered from bilateral m...

Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits – SDHA/B/C and D – is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...

The screening and monitoring of intestinal diseases still provides challenges within in vivo and clinical research. For example, patients with Crohn’s disease will typically have a biannual endoscopic examination – this invasive procedure is distressing for patients and hence its frequency is limited at the expense of sufficient monitoring of pathological progression. Modalities such as CT and MRI can image the GI tract, however, they are ionising, which nor...

Background: Therapeutic peptides are medicines with high potency, low toxicity, and, broad disease targets. However, the widespread use of peptides is limited by their easy degradation in human body. The intestinal organoid technology can be utilized to design a novel cell-based peptide delivery system. Intestinal organoids feature intestinal epithelial tissue-like structure, harboring all the expected in vivo epithelial cell types, including enteroendocrine cells (EE...

Background: Inflammatory skin diseases such as psoriasis induce changes in the skin-secretome, which potentially lead to dysfunction of key metabolic tissues and increased risk of psoriasis co-morbidities, such as type 2 diabetes (T2D). However, the proteins and peptides that make up the skin-secretome remain poorly characterised. Proteomic analysis has identified vimentin, parathymosin, prothymosin-alpha, dermcidin, and desmin as potential skin-secretome factors, which may in...

Increased fatty acid (FA) concentration is implicated in the development of insulin resistance (IR) in tissues such as the kidney. Research indicates the protective role of glucagon-like peptide (GLP)-1 receptor agonists; GLP-1 (7-36) amide and incretin mimetic; liraglutide, against IR. We aimed to induce IR in HEK293T cells, using the three most abundantly consumed FAs; palmitate, oleate, and stearate, or in a combination termed POS. This model was used to assess the extent o...

Gestational diabetes (GDM) occurs when beta-cell insulin secretory capacity is insufficient to meet the increased demands required to maintain normoglycemia during pregnancy. Considerable clinical evidence supports a link between depression and GDM, although underlying mechanisms are unclear. We used the unpredictable chronic mild stress (UCMS) rodent model of depression to examine the metabolic effects of depression in pregnant mice. C57BL/6J females were divided at 4-weeks-o...

Background: During the first wave of the COVID pandemic a large proportion of diabetic clinics and services were reduced or postponed, combined with a move to telephone consultations for GPs. Diabetic nurse specialists were also re-deployed from regular inpatient services. Additionally, patients were reluctant to seek out healthcare services either due to the risk of contracting COVID or not wanting to place unnecessary stress on the healthcare services....

Background: There are nearly 5 million people with diabetes mellitus in the UK with an estimated 10% of diabetes patients developing a foot ulcer at some point in their lives. Nearly 9500 diabetes-related amputations are reported in the UK per year and approximately 80% of the NHS budget on diabetes care is spent on treating complications. Limb/life-threatening diabetic foot problems are referred to acute services immediately and all other active diabetic foot diseases are ref...

Chronotype is defined as a trait determining the subject circadian preference in behavioral and biological rhythms relative to external light-dark cycle.The morning chronotype (MC) prefers activities earlier in the day, while the evening chronotype (EC) perform its main activity late in the day. Intermediate chronotype (IC) is in an intermediate position between MC and EC. EC as well as menopause have been associated to an increased risk of cardiometabolic diseases (CMD) in ob...

Introduction: Hemolytic-uremic syndrome (HUS) is a clinical condition characterized by nonimmune hemolytic anemia, thrombocytopenia and progressive kidney failure mediated by E.Coli Shiga-like toxin. In rare cases the inflammatory process may lead to beta-cell necrosis and, hence, overt diabetes mellitus. Post-HUS DM is characterized by severe insulin depletion and very high insulin sensitivity, making its therapeutic management particularly challenging....

A 47-year-old Caucasian gentleman was diagnosed with diabetes mellitus in September 2019. He presented with blood glucose 29.5 mmol/l and negative ketones in December 2020 and was treated with variable rate insulin infusion. He had short stature with height of 161 cm and weight 53.5 kg (BMI 20). There was mild weakness of quadriceps (4/5). Laboratory tests revealed high lactate (5.38 mmol/l) and HBA1c (70 mmol/mol), reduced eGFR (47 ml/min) and negative antibody. He had gradua...

Introduction: Neuroendocrine tumours (NET) are a diverse group of neoplasms originating from cells within the diffuse endocrine system. Urine 5-HIAA is commonly used in the diagnosis and monitoring of patients with NET in particular small intestinal neuroendocrine tumour with carcinoid syndrome. Urine 5-HIAA collection over a 24 hour period and the potential exposure to acid preservative in the sample container, limit the use of urine 5-HIAA.Methods: Sam...

We present a case of a 73 year old female with recurrent non-functioning adenoma and co-existent mantle cell lymphoma within the pituitary fossa. Mantle cell lymphoma (MCL) is rare comprising around 6% of non-Hodgkin lymphoma diagnoses. It infrequently involves the central nervous system, with only one published case of involvement of the pituitary gland. Our patient initially presented in April 2003 with marked visual loss due to a large non-functioning cystic pituitary macro...

Introduction: The hypercortisolaemic state of Cushing’s syndrome can lead to ophthalmic complications. We present two case reports of rare association of central serous retinopathy (CSR) and Cushing’s syndrome.Case 1: A 46-year-old man presented with gradual deteriorating vision. He was diagnosed with CSR and was referred to the Endocrine department for screening for Cushing’s given suspicious clinical features. Past history included hyper...

Introduction: The association of central diabetes insipidus (CDI) and acute myeloid leukaemia is rare. The onset of CDI is variable during the disease course and can be a presenting feature of AMLCase: : A 75 years old Caucasian male patient presented with acute right sided abdominal pain. His initial CT abdomen was normal. He had normocytic anaemia, thrombocytosis and monocytosis. A repeat CT scan 3 days later showed bilateral swollen adrenal glands and...

Insulinoma is an insulin-secreting tumour of beta cells resulting in hypoglycemia. This rare tumour presents with hypoglycemic symptoms and can be easily confused with transient ischemic attack or epilepsy or delirium. The diagnosis of an insulinoma is usually made biochemically and confirmed by localizing the tumour with imaging. We present this case of a 56 years old woman who repeatedly presented to emergency for her symptoms of diplopia and word finding difficulty. She als...

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...

Introduction: Gestational diabetes (GDM) affects 1 in 6 pregnancies globally, increasing babies’ risk of being born large-for-gestational-age (LGA). This can cause birth injuries and predisposes offspring to developing cardio-metabolic disease in adulthood. The cause of LGA in GDM is unclear, however GDM placentas have been shown to display abnormal morphology indicative of vascular network immaturity. MicroRNAs (miRNAs) are known regulators of vascular development, inclu...

Cell autonomous sex identity (CASI) of birds is the concept that sex-steroids have little or no effect on the development of secondary sexual characteristics in birds, and that sexual dimorphisms are determined by the sex-chromosome content of cells in individual tissues. In avian species males have a ZZ sex chromosome, while females are ZW. Sexual dimorphisms in chickens, such as muscle mass, comb and wattle size and hackles and spur development are believed to be determined ...

Silver-Russell syndrome (SRS) is a rare syndrome. It was first reported by Silver, Russel and al, who described children with low birth weight, postnatal statural delay, peculiar facies and asymmetry of the body. We report the case of two sibling children born to non-consanguineous parents, admitted to our level for the exploration of severe staturo-weight retardation in relation to marked intrauterine growth retardation. The first child is a 04-year-old girl, born at term. It...

Background: Hypothyroidism is a common disorder, with a prevalence of approximately 5% and incidence of approximately 250/100,000 per year in the adult population, but both prevalence and incidence keep raising. Refractory hypothyroidism is defined by persistent TSH increase despite the administration of supra physiological weight-based dose of levothyroxine, which is usually >1.9ug/kg/d in patients with primary hypothyroidism.Aim of the Work: To com...

Introduction: The common causes of thyrotoxicosis are Graves’ disease, toxic multinodular goitre and toxic adenoma which account for >90% of cases of this condition. Iodine-induced thyrotoxicosis (Jod-Basedow syndrome) is infrequently considered as a cause of thyrotoxicosis. This case describes a lesser known cause of iodinated contrast-induced thyrotoxicosis.Case Report: A 47 year old man with known alcoholic liver disease and recurrent pancrea...