Endocrine Abstracts

Background: EuRRECa (eurreca.net) is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.<p...

Objectives: Mutations in SECISBP2 cause deficiency of selenoproteins, resulting in a multisystem disorder with abnormal circulating thyroid hormone and selenium levels and features due to lack of specific selenoproteins or loss of antioxidant selenoenzymes. Having observed early-onset, aneurysmal thoracic aortic dilatation in four patients with this disorder, we studied zebrafish and murine Secisbp2 mutant models to determine whether the aortic phenotype and selenopro...

Epigenetic reprogramming including altered transcription factor binding and altered patterns of chromatin and DNA modifications are now accepted as the hallmark of aggressive cancers. We show that global changes in chromatin structure and chromatin accessibility in prostate tumour tissue can define castrate-resistant prostate cancer and be used to inform the discovery of gene-level classifiers for therapy. In addition, we show that the androgen receptor overexpression alone, w...

Background: Registries are of key importance for a centre of expertise. Endo-ERN consists of 71 reference centres (RCs) that cover several groups of rare endocrine conditions within 8 themes (www.endo-ern.eu). It is unclear if awareness, participation and availability of registries is uniform for all conditions within Endo-ERN.Objective: To determine the extent of engagement in registries of Endo-ERN members.Methods: Endo-ERN RC le...

This article discusses the assessment of quality of life, psychological state and anxiety-depressive disorders in patients with metabolic syndrome. It is known that the prevalence of metabolic syndrome in different countries is about 30% and varies from included criteria. The problem of the quality of life of obese and overweight patients is relevant and socially significant. Research Methods The authors present the results of a study of 70 patients with MS and 36 apparently h...

Objectives: Hyperthyroidism in pregnancy presents a challenge for medical doctor, patient and products of conception.Aim of the study: To specify the peculiarities of expression of hyperthyroidism in pregnant women, diagnosis, monitoring, treatment, prognosis of pregnancy and effect on the fetus.Materials and methods: The study included a total of 27 women with hyperthyroidism of which 15 (group A) had thyrotoxicosis before concept...

Objectives: THRA mutations cause Resistance to Thyroid Hormone α (RTHα), an underdiagnosed disorder with hypothyroid features but near-normal thyroid function tests (TFTs). We developed a pathway, combining molecular analyses, new biomarkers and physiological measurements, to better diagnose and treat this disorder.Methods: Structural and functional analyses of THRA variants, discovered by next generation sequencing in specifi...

Introduction: Hypogonadism is prevalent in older men and associated with various comorbidities. Despite this, it is underdiagnosed and undertreated.Aim: To identify factors associated with underdiagnosis and undertreatment of male hypogonadism.Methods: Quantitative, questionnaire-based, online survey conducted in the UK among men aged ≧40 years with hypogonadism confirmed by blood test (n=101, from N=3 871 ...

Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant inherited disorders causing non-insulin-dependent diabetes. MODY is the most common form of monogenic diabetes, accounting for 1-2 % of diabetes in Europe; however it is often misdiagnosed as Type 1 or 2 Diabetes. MODY is caused mainly by mutations in the GCK, HNF1A or HNF4A genes, the two former accounting for 70% of all cases. A molecular genetic diagnosis is important as it can directly alter patie...

We present a case of a 76-year-old Caucasian woman with combined primary hypoparathyroidism and vitamin D deficiency resulting in life-threatening hypocalcaemia.She has a history of COPD and initially presented in 2002 with an exacerbation of her airways disease. During treatment for her condition an incidental note was made of hypocalcaemia (calcium 1.62 mmol/l). PTH was minimally elevated at the time but 25-hydroxycholecalciferol was low (4.2 ng/ml). S...