Searchable abstracts of presentations at key conferences in endocrinology

ea0029p114 | Adrenal medulla | ICEECE2012

Next generation sequencing is a cost effective and time saving method in clinical genetic screening of patients with pheochromocytomas

Crona J. , Delgado Verdugo A. , Granberg D. , Welin S. , Stalberg P. , Hellman P. , Bjorklund P.

Background: Pheochromocytomas are rare tumours arising from adrenal medulla. Recent findings show that about 30–40% of pheochromocytomas are caused by germline mutations in one of the ten hereto known susceptibility genes: SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1, TMEM127 and MAX. This list of genes is constantly growing. These ten genes together consist of 128 exons and a genetic screening test is both extensive time-consuming and expensive. We introduce utilizing N...

ea0029s48.1 | Pathogenesis of primary aldosteronism | ICEECE2012

Genomic profile in primary aldosteronism

Hellman P.

Primary aldosteronism has recently been found as a common cause for essential or secondary hypertension. As much as 1/10 may be explained by this disease. Diagnosis is crucial, since a adrenalectomy may cure the patient.The underlying cause in the majority of sporadic cases have been unknown until recently, while classically three forms of familial hyperadlosteronism (FH) exist: familial hypertension type I, II and III.FHI, which o...

ea0029p46 | Adrenal cortex | ICEECE2012

Differential methylation signature in benign and malignant cortisol producing adrenocortical tumors

Akerstrom T. , Ahmad T. , Hellman P. , Bjorklund P.

Background: Adrenocortical carcinomas (ACC) are rare tumors with an incidence of 1–2 per million. Although rare, it is an aggressive endocrine cancer with poor prognosis. As of today there is no reliable diagnostic biomarker to distinguish benign tumors from malignant tumors. Global changes in DNA methylation and DNA promoter hypermethylation are important events in tumorigenesis. Promoter hypermethylation can cause silencing of tumour suppressor genes or lead to abnormal...

ea0029p1655 | Thyroid (non-cancer) | ICEECE2012

Left-shifted set point of calcium/PTH-relation in patients with Grave’s thyrotoxicosis

Annerbo M. , Stalberg P. , Hultin H. , Hellman P.

Patients with Grave’s disease (GD) are more prone to develop low serum calcium values than patients operated on because of goitre after total thyroidectomy. Moreover, some patients with GD achieve hypercalcemia probably due to active bone disease. We have used citrate-calcium clamping (CiCa) in order to investigate the calcium homeostasis in detail in patients with Grave’s disease.Material and method: Our series of patients undergoing total thy...