Endocrine Abstracts

IntroductionMultifocality is a common finding in papillary thyroid carcinoma (PTC), but its biological significance is not well established. In some cases not all foci present the same histological pattern.ObjectiveTo study the different histological patterns and molecular profiles of multifocal PTC (mPTC).Material and methodsAll patients with a confirmed diagnosi...

Background: Literature data indicate that up to 36.8% of patients with chronic endocrinopathies, occurring in children, abandon follow-up visits in adulthood, with the risk of major long-term consequences for their health. For this reason, it is essential that their transfer to an adult physician takes place through a well-structured transition process in order to ensure continuity of care. With this goal, the Transition Clinic of pediatric endocrine pathologies of AOUI Verona...

The balanced hormonal regulation of metabolism is the cornerstone of endocrinology. One of the most elegant aspects of our discipline is that increased or decreased hormone activities lead to predictable changes and diseases. We were surprised, therefore, to identify a novel disease where the same genetic alteration, a missense change in the beta-cell transcription factor MAFA, causes two very opposite conditions: life-threatening hypoglycaemia due to numerous small i...

Since individuals with autoimmune Addison’s disease (AD) present considerable co-occurrence of other autoimmune conditions, clustering of autoimmunity was also predicted among their relatives. We aimed to evaluate the burden of autoimmunity in families of patients with AD by means of a survey, serum autoantibody testing and correlating these data with the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, and BACH2 rs3757247). 7...

While just a few years ago we rarely thought about genetics when looking after patients with pituitary tumours, now this aspect of endocrinology, similar to many others, is keeping the genetic labs increasingly busy. Understanding the molecular mechanisms involved in pituitary tumorigenesis and discovering the importance of the microenvironment of these tumours led to deeper understanding of pituitary tumorigenesis. Applying these new discoveries to predict tumour behaviour an...

Germline mutations in the AIP gene predispose to the development of pituitary adenomas, most often GH secreting tumours. These patients often poorly respond to medical therapy with somatostatin analogues.There are two mechanisms suggested to be involved in this poor response.One suggests that the somatostatin-induced upregulation of the tumour suppressor gene Zac1 involves AIP. SSTR2 agonist treatment leads to AIP...

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Prevention of disease or severe complications is the intended hallmark of modern medicine. Currently available diagnostic methods allow the early recognition of an increasing number of diseases allowing timely treatment and hopefully better long-term outcomes. The best examples of this strategy are genetic diseases and every week the genetic cause for another disease is identified. Therefore, the understanding of the practicing clinician the nature and pitfalls of genetic test...

The number of diseases associated with genetic abnormalities has grown exponentially in the last decade. Pituitary tumours are no exception, as now at least nine genes are known to predispose to pituitary tumour development: MEN1, PRKAR1A, AIP, CDKN1B, SDH (A, B, C and D) and DICER1. On the other hand, only a small minority of the pituitary-related gene carriers develop pituitary disease, suggesting that other interfering genes or factors are also important. ...

Professor Korbonits is a clinical academic endocrinologist with special interest in pituitary tumorigenesis and as well as metabolic effects of hormones. She graduated in medicine at Semmelweis Medical School in Budapest and works in the Department of Endocrinology at Barts and the London School of Medicine at St. Bartholomew’s Hospital in London since 1991, where currently she is Co-Centre Head. She received and MD and a PhD from the University of London and was a recipi...