Endocrine Abstracts

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...

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...

Sporadic and familial pituitary adenomas are being recognised and diagnosed with increasing frequency due to better diagnostic techniques and improving awareness.Recently, a number of important steps have been taken to clarify the molecular pathological events leading to familial pituitary tumorigenesis, with the recognition of the tumour suppressor genes p27 and AIP as causes of familial pituitary tumours in addition to previously-establis...

The metabolic enzyme adenosine monophosphate-activated protein kinase (AMPK) was originally discovered as a regulator of cellular energy homeostasis. It protects and replenishes cellular ATP via stimulating catabolic processes such as glycolysis and lipid oxidation, and inhibiting anabolic processes such as lipid synthesis and gluconeogenesis in peripheral tissues (liver, adipose or muscle cells). However, more recently it has emerged that AMPK activation in the hypothalamus l...

Context: Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) is a rare endocrine disease in which patients have isolated gonadotropin releasing hormone (GnRH) deficiency in the context of otherwise normal structure and function of anterior pituitary and hypothalamus with normal olfactory ability.Objective: To explore the underlying pathogenic defect in patients with delayed puberty.Patients: We investigated genetic defects in...