Endocrine Abstracts

Introduction: MEN2B is a rare genetic tumor syndrome that causes medullary thyroid cancer at a young age and may lead to pheochromocytoma later in life. Early diagnosis is crucial for thyroidectomy before metastasis. This case report aims to increase awareness of MEN2B signs and symptoms and the need for early referral and treatment.Case: A 10-year-old girl was referred for ultrasound imaging of a swollen submandibular g...

Background: Type III hyperlipidaemia (T3HL) is characterised by equimolar increases in plasma triglyceride and cholesterol on an APOE2/2 genotype background and conveys a high risk of early-onset cardiovascular disease (CVD). Phenotypic penetrance of T3HL is <10% and precipitated by several endocrine/metabolic disorders such as obesity, diabetes and hypothyroidism. We explored the effect of triglyceride-raising polygenic score precipitating T3HL, in the context of...

Introduction: Platinum-etoposide chemotherapy is a globally established chemotherapy combination for EP-G3-NEC. However, there are many different schedules for such chemotherapy, and the preferred one for EP-G3-NEC has not been established.Methods: An international survey was created, and completed by colleagues with an expertise in the field of neuroendocrine neoplasms. The aim was to explore which schedules of platinum-etoposide chemotherapy are used a...

Chemical contaminants from human activity are omnipresent in the environment. A great number of common industrial compounds are detected in human blood and urine. Common chemicals such as bisphenols, phthalates and parabens that can interfere with endocrine signaling are classified as endocrine disruptive compounds (EDCs). The sex steroid hormonal signaling pathway is complex and sensitive to interference, as circulating concentrations of these hormones are low. Even miniscule...

Glucocorticoid (GC) excess drives obesity, insulin resistance and type 2 diabetes. Obstructive sleep apnoea (OSA) is a prevalent condition associated with both activation of the hypothalamic-pituitary-adrenal (HPA) axis and an adverse metabolic phenotype. However, a causal link between these two features has not been established. We designed a novel human model of intermittent hypoxia (IH) aimed at replicating the systemic insulin resistance associ...

Glucocorticoid (GC) excess drives obesity, insulin resistance and type 2 diabetes. Obstructive sleep apnoea (OSA) is a prevalent condition associated with both activation of the hypothalamic-pituitary-adrenal (HPA) axis and an adverse metabolic phenotype. However, a causal link between these two features has not been established. We designed a novel human model of intermittent hypoxia (IH) aimed at replicating the systemic insulin resistance associ...

Background: Incidence of hypercalcaemia during pregnancy is difficult to estimate as routine calcium screening is not recommended. Literature is conflicting if hypercalcemia results in worse maternal and fetal outcomes.Objectives: Aim of this study is to determine frequency and association of hypercalcaemia in pregnancy with early maternal and fetal outcomes.Methods: This retrospective cohort study included gestations with expected...

Background: Postpartum depression (PPD) is a common mental health disorder with a major impact on maternal health and wellbeing and offspring development. Thyroperoxidase antibody (TPOAb) positivity is a major risk factor for postpartum thyroiditis and via this link, it is hypothesized that TPOAb positivity is a risk factor for PPD. However, the results of currently available single center studies are heterogeneous and affected by major study limitations.<p class="abstext"...

Background and Objective: Disrupted thyroid hormone (TH) signaling has devastating effects on human neurodevelopment. The molecular mechanisms underlying TH regulation and action are largely based on animal models. However, animal models are limited in revealing some of the most fundamental aspects of neurodevelopment that are unique to humans. We employed human induced pluripotent stem cell (iPSC) technology to study the effects of T3 on neurodevelopmental processes in a huma...

Background: Medullary thyroid carcinoma (MTC) is a rare disease accounting for 1-3% of all thyroid carcinomas. Unfortunately, most patients present with metastasized disease: 70% with cervical lymph node metastasis and 5-10% with distant metastasis. Survival strongly correlates with stage of disease at diagnosis, illustrating the need for early diagnosis. Calcitonin is a well-established tumour marker for MTC, but its use in the screening phase is limited by a high rate of fal...