Endocrine Abstracts

Understanding of the molecular pathogenesis of adrenocortical neoplasias has been greatly advanced by exome sequencing demonstrating in Conn adenomas hot spot mutations in KCJN5, ATP1A1, ATP2B in a substantial subgroup of patients. Current work now demonstrates that constitutive activation of the cAMP – PKA pathway not only causes rare bilateral hyperplasias like PPNAD, but is also involved in a high percentage of cortisol producing adenomas. Intriguingly, this hot spot m...

Adrenocortical carcinoma (ACC) is a heterogeneous neoplasm with an incompletely understood pathogenesis and an unsatisfactory prognosis. However, international initiatives like the European Network for the Study of Adrenal Tumours (ENSAT) and international trial consortia recently led to improved diagnosis and treatment. Activated signalling pathways primarily involved in adrenal development like IGF2, SF1, and β-catenin pathways play also a key role in the ACC developmen...

Bruno Allolio, University of Würzberg, Germany AbstractBruno Allolio is Professor of Medicine at the University of Würzburg and Head of the Department of Endocrinology at the University Hospital Würzburg.He trained in Cologne in both clinical and experimental endocrinology. For postdoctoral studies he worked at Bartholomew's Hospital, London, and at the National Institutes of Heal...

Adrenal tumours are among the most common human neoplasias and comprise a wide range of pathologies from benign non-secretory adenomas (leave-me-alone lesions) to life threatening adrenocortical cancer (ACC) requiring early detection and treatment. For the patient, the discovery of an adrenal mass inevitably raises the question whether the lesion is malignant. Current strategies to answer this question are based upon tumor size, imaging characteristics in CT or MRI and follow-...

Primary adrenal insufficiency was first described in 1855 by Thomas Addison, demonstrating that the adrenal cortex is essential for life. Life-saving glucocorticoid replacement became widely available only with the clinical introduction of cortisone in 1949. Chronic primary adrenal insufficiency (PAI) has a prevalence of 93–140 per million and its incidence is rising due to an increase in autoimmune adrenalitis. In developing countries tuberculosis is still a leading caus...

Background: The differential diagnosis of hyponatremia is often challenging because of its association with multiple underlying pathophysiological mechanisms, diseases and treatment options. Several algorithms are available in order to guide the diagnostic approach to hyponatremia, but their diagnostic and clinical utility has never been evaluated. We aimed to assess in detail the diagnostic utility as well the limitations of the existing approaches to hyponatremia.<p clas...

ACC is a rare, heterogeneous malignancy with poor prognosis. Data from the German ACC Registry (n=478) indicate a 5-year survival rate of 47%. In addition to mitotane, cytotoxic drugs are standard of care in advanced ACC. The best results have been reported by Berruti et al. for the combination of mitotane with etoposide, doxorubicin and cisplatin with an objective tumor response rate of 49% in 72 patients. A response rate of 36% was published for the combination...

Background: The syndrome of inappropriate antidiuresis (SIAD) is the most frequent cause of hyponatremia. Its diagnosis requires a decreased serum osmolality, urinary osmolality >200 mosm/kg, clinical euvolemia, and urinary sodium (UNa) >30 mmol/l. The natriuretic effect of diuretics impairs the diagnostic accuracy of UNa and thus, limits the diagnostic and therapeutic decision in hyponatremic patients substantially. We therefore examined the accuracy to predict SIAD o...

Background: Adrenocortical tumors consist of benign adenomas (ACA) and highly malignant carcinomas (ACC). Dysregulation of the Notch signalling pathway is implicated in several cancers with oncogenic or tumor suppressor functions. JAG1 is a Notch1 ligand of the Jagged family and a common target gene for Notch and Wnt/β catenin pathways. It has been reported that upregulated expression of JAG1 enhances cell proliferation in ACC.Material and methods: ...

Introduction: Adrenocortical tumors consist in frequent benign adenomas (ACA) and rare highly malignant carcinomas (ACC). BIRC7/livin gene, a member of the inhibitors of apoptosis family, plays an important role in tumorigenesis in a variety of malignancies. Different studies demonstrated that BIRC7 overexpression represent a risk factor for cancer development and progression. The aim of our study was to evaluate the expression of BIRC7 in normal adrenals and adrenocortical tu...