Endocrine Abstracts

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...

Introduction: There is no difference in blood pressure between boys and girls, but following puberty, blood pressure increases more in men than in women. The higher blood pressure and stronger progression of hypertension in men is associated with a higher risk and mortality for cardiovascular diseases than in women. Androgens are known to play an important role in renal tubular epithelial cell growth, hypertrophy and erythropoetin production and may be important determinants o...

Combined pituitary hormone deficiency (CPHD) denotes impaired production of growth hormone (GH) and of one or more other pituitary trophic hormones. Distinct subtypes of CPHD have been shown to be due to mutations in different homeobox transcription factors, which are involved in pituitary development and organogenesis. So far, only PROP-1 and HESX1 mutations have been associated with CPHD comprising corticotropin deficiency. Here we report two patients with a novel form of CP...

Gorham-Stout disease is a rare, potentially life threatening skeletal disorder of unknown aetiology. It is characterized by local proliferation of abnormal vessels associated with profound osteolysis. Optimum treatment remains to be established. Herein we report the case of a 45-year-old woman who presented with left-sided thoracic pain, which had gradually increased over the last nine months. Physical examination revealed a primary lymphoedema of the left arm, which had devel...

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...

Background: Adrenocortical tumors consist of benign adenomas (ACA) and highly malignant carcinomas (ACC) with a still incompletely understood pathogenesis. Our aim was to test, whether there is evidence for an adenoma-carcinoma sequence.Patients and methods: High-resolution single nucleotide polymorphism (SNP) microarrays (Affymetrix SNP 6.0) were used to detect copy number alterations (CNAs) and copy neutral losses of heterozygosity (cnLOH) in 46 adreno...

Objective: The major diagnostic problem in primary aldosteronism is the differentiation between bilateral hyperplasia and aldosterone producing adenoma which is essential for further treatment. Adrenal vein sampling is regarded as the current gold standard, however it is an invasive, highly examiner-dependent method. Molecular imaging targeting the aldosterone synthase (CYP11B2) which is expressed specifically in aldosterone producing adrenal tissue may be an useful alternativ...

Introduction: The genetic mechanisms underlying adrenocortical tumor development are still largely unknown. We used high-resolution single nucleotide polymorphism (SNP) microarrays to detect copy number alterations (CNAs) and copy neutral losses of heterozygosity (cnLOH) in cortisol-secreting adrenocortical adenomas (ACAs). We focused on microalterations aiming to discover new candidate genes involved in early tumorigenesis and/or autonomous cortisol secretion.<p class="ab...

In recent years, it was demonstrated that tumor infiltrating and circulating regulatory and cytotoxic T-cells are associated with clinical outcome in several solid tumors. However, their role in adrenocortical carcinoma (ACC) was never studied, although 60% of these tumors secrete autonomously cortisol, a well-established potent immunosuppressant that most likely influences the balance between different T-cells.Firstly, we analyzed the circulating regula...