Endocrine Abstracts

Background: Coronavirus 2019 (Covid-19), an infectious disease caused by SARS-CoV-2 virus has been linked to autoimmunity. Graves’ disease (GD) is a common subtype of paediatric hyperthyroidism and an autoimmune condition, where antibodies stimulate the thyroid-stimulating hormone receptor on the thyroid gland to produce excess thyroid hormone. Although, paediatric GD is rare, incidence have risen before the pandemic, and this rise has accelerated since the Covid-19 pande...

A 33-year-old woman with type 1 diabetes and autoimmune Addison’s disease conceived in September 2021 following careful preconception counselling. The patient had a history of recurrent, severe hypoglycaemia requiring intensive care admission and had previously received two allogenic islet cell transplants (January 2020 and November 2020). The patient had no severe hypoglycaemia following transplantation, although she continued to experience overnight hypoglycaemia, while...

Background: Peptide receptor radionuclide therapy (PRRT) is a promising radiation-based therapy for metastatic neuroendocrine tumors (NETs) but remains palliative. Peptidyl-prolyl cis-trans isomerase (Pin1) is an evolutionally conserved enzyme that catalyzes the cis-trans isomerization of phosphorylated serine/threonine-proline motifs of its substrates and has recently been involved in DNA double strand break (DSB) repair in BRCA-proficient breast cancer cells. Here we study w...

Introduction: Profound thyrotoxicosis commonly presents with heat intolerance, sweating, weight loss, palpitations, tremor, goitre and eye signs in the case of Grave’s disease. Typically, thyroid storm is differentiated by marked volume depletion, congestive cardiac failure, cardiac arrhythmias, confusion, nausea and vomiting, often with extreme agitation. The wide-ranging and systemic manifestations associated with profound hyperthyroidism are mediated through the thyroi...

Background: The role of ferroptosis – a regulated form of cell death – in the pathophysiology of aldosterone-producing adenomas (APA) is unclear.Objective: To identify mechanisms of ferroptosis in human adrenal cells and translate these findings to APA pathophysiology.Methods: Cell death detection, lipid ROS generation and mRNA sequencing were performed on HAC15 cells treated with the specific ferroptosis inducer RSL3 (1,...

Introduction/Background: Patients with NETs and acromegaly are commonly treated with somatostatin analogues (SSAs), such as octreotide and lanreotide depot formulations. The Pharmathen syringe is now available in several European countries and the USA for lanreotide depot injection. When using SSAs, confidence in and ease of use with syringes is important for decision-making in long-term therapy.Aims: PRESTO 3 compared nurses’ preference for the Som...

Background: SGPL1 carries out the final degradative step of the sphingolipid pathway, irreversible cleavage of sphingosine-1-phopshate. SGPL1 deficiency is associated with a pathological accumulation of sphingolipid species and a multi-systemic condition incorporating primary adrenal insufficiency (PAI). Sphingolipid intermediates, ceramide and sphingosine are postulated to act as modulators of the steroidogenic pathway, acting as second messengers altering downstream expressi...

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...

Reproductive timing strongly influences the fitness of the individual. While most vertebrates rely on photoperiodic changes to induce seasonal reproduction, the arctic ground squirrel (AGS) naturally undergoes reproductive maturation in a photoperiod-independent manner. In addition, males spontaneously activate their reproductive axis during hibernation, but the timing of reproduction is sensitive to external cues. We are using electron microscopy to examine, define, and measu...

Visinin-Like Protein-1 (Vsnl1) is a member of the EF-hand calcium sensor protein family that is expressed in the zona glomerulosa of the rat and human adrenal and upregulated in aldosterone-producing adenomas.We studied the expression pattern of Vsnl1 and co-localization with the CYP11B2 enzyme and the zona glomerulosa (ZG) marker Dlk1 (ZOG) using double and triple immunofluorescence in the adrenal of rats on a normal, high and low sodium diets. We also ...