Endocrine Abstracts

ObjectivePrimary hyperparathyroidism (PHPT) is a common endocrine disorder affecting 2% of the population aged 55 years or older. Primary hyperparathyroidism is due to parathyroid adenoma in about 85% of cases, parathyroid hyperplasia in about 15% of cases, and parathyroid carcinoma in less than 1% of cases. Familial parathyroid disorders are responsible for 10% of the PHPT cases and include among other disorders caused by parafibromin malfunction. Paraf...

BackgroundFeatures of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat and low muscle mass and strength. In children with PWS, GH treatment improves physical health, cognition and quality of life (QoL). GH treatment is standard of care in PWS children, but in adults this is not the case. A systematic review and meta-analysis was conducted to provide a concise...

IntroductionPrader-Willi syndrome (PWS) is a complex genetic syndrome in which hypothalamic dysfunction leads to hyperphagia and pituitary hormone deficiencies (PHD), among others. The majority of patients have intellectual disability (ID) and use of psychotropic drugs is frequent. Due to hypotonia and the low muscle mass associated with the syndrome, adults with PWS have a low basal metabolic rate (BMR). Combined with hyperphagia, this results in high r...

We present a case of a 62-year-old lady with a grade 3 well-differentiated metastatic gastric-neuroendocrine tumour complicated by symptoms of CS (weight-gain, bruising, proximal weakness) which developed over 4 weeks. She had progressive disease after exhausting all conventional anti-neoplastic therapeutic options. Screening tests revealed raised 24-h urinary free cortisol (3460 nmol/24h[<165]), post-overnight dexamethasone suppression serum cortisol (serF) 1200 nmol/l(&#...

Fc Receptor-like (FCRL) genes play a role in the immune system by encoding proteins that function as receptors on the surface of immune cells. Peripheral blood B cells, which are positive for FCRL3 and FCRL4, are rarely found in healthy individuals. In previous studies overexpression of FCRL4 was observed in patients with Graves’ disease (GD) but without association with thyroid peroxidase (TPOAb) or thyroglobulin (TgAb) antibodies. Nonetheless, the clinical significance ...

Our understanding of modifiable risk factors for developing primary hyperparathyroidism (PHPT) may support interventions to prevent the development of the disease or reduce its severity and deepen our insights into its pathogenesis. Obesity has been associated with elevated serum parathyroid hormone (PTH) in the general population and may also alter the clinical presentation in patients with PHPT.Objectives: The objectives of the study were to compare th...

Background: In 2017, the World Health Organization (WHO) adjusted the histopathological classification of pituitary adenomas (PAs) by including pituitary cell lineage specific transcription factors (TFs), elucidating a continuous spectrum between true null cell (NCA), silent, clinically silent, and functioning adenomas. The definitions of non-functioning (silent) gonadotroph, corticotroph, somatolactotroph and thyrotroph adenomas were previously reserved for immunohistochemica...

Background: Maternal free testosterone (FT) increases during 3rd trimester pregnancy and FT levels are higher in women with polycystic ovary syndrome (PCOS) compared to controls. Fetal exposure to maternal FT during 3rd trimester was associated with lower weight, length and shorter abdominal circumference at birth, in boys. Furthermore, lower birth weight has been related to higher abdominal fat mass in young children.Aim: To examine associations between...

Acromegaly is usually diagnosed after several years of duration. The multimodal therapy – surgery, radiotherpy, pharmacotherapy – is necessary in the majority of patients. Register of sellar tumors (RESET) collecting data of patients from eight tertiary centers in the Czech and Slovak Republics since the year 2000 was established in 2008.Aim of analysis: Evaluation of diagnostics of acromegaly and effectiveness of its treatment in a daily pract...

Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Pr...