Endocrine Abstracts

Shapiro's syndrome is characterised by agenesis of the corpus callosum, hypothermia and hyperhydrosis. We report a case associated with abnormal water balance and hypothalamic dysfunction.A 20 year old Turkish Cypriot man presented with an 8 month history of profuse sweating associated with a perception of extreme cold. He described progressive problems with speech, memory and clumsiness on walking. Symptoms of polyuria and polydipsia were associated wit...

The tumor immune microenvironment is essential, it could influence a favorable or negative response against the tumor cells, and it has been related to therapy response and prognostic factors. Tumor infiltrating lymphocytes (TILs) plays an important role in the development, progression, and tumor control, thus presence of TILs could be related to disease-specific traits. The aim of the present work is to evaluate the expression of immune-related genes in forty-two pituitary ad...

Current systemic treatments are not satisfying for the treatment of adrenocortical carcinoma (ACC). However, translation of preclinically promising approaches were often disappointing indicating that existing tumor models might have inadequately predicted clinical applicability. Thus, our workgroup initiated a comparative drug screen of relevant chemotherapies and therapies targeting IGFR, EGFR, VEGFR/PDGFR and Wnt signalling pathway in the classical NCI-H295R and recently dev...

Background: The association between autoimmune thyroid disease (AITD) and other autoimmune diseases is well-known. The prevalence of concurrent autoimmune gastritis and celiac disease in AITD has been estimated at approximately 20–25% and 2–5% respectively. Although both conditions have significant morbidity including malignancy and may necessitate dietary modifications and endoscopic evaluation, no recommendation exists to screen AITD patients for these autoimmune d...

In an attempt, to overcome the lack of preclinical models for adrenocortical carcinoma (ACC), we recently aimed at the development of patient-individual tumor models for ACC. During these studies one xenograft (MUC-1), derived from a neck metastasis of an ACC, showed extraordinary engraftment properties and sustained tumor growth over several passages in the murine host. During ongoing studies we investigated and compared all currently available xenograft models for ACC (NCI-H...

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF1 and normal/elevated serum GH. IGF1 insensitivity results in pre- and postnatal growth failure with normal/relatively high IGF1 levels.Objective: To undertake candidate gene (CGS) and whole exome (WES) sequencing to obtain a genetic diagnosis in children with short stature and GHI or IGF1 insensitivity.Methods: As a referral centre for GHI genetics, since ...

Introduction: Gas chromatography/mass spectrometry based steroid profiling has been proposed as a tool for differentiating adrenocortical carcinoma (ACC) from benign adrenocortical adenoma (ACA). We retrospectively examined urinary steroid profiles from ten patients with ACC and 14 patients with ACA to determine, if the steroid profiles were predictive in distinguishing benign from malignant disease.Methods: Patients who had undergone adrenalectomy for r...

Introduction: The diagnosis of Cushing’s syndrome (CS) can be challenging and there is no single gold standard diagnostic test. Endocrinologists rely on a combination of plasma cortisol (before and after dexamethasone), midnight salivary cortisol and urinary free cortisol (UFC) to make the diagnosis. Assessment of urinary corticosteroids and their metabolites, measured by gas chromatography–mass spectrometry (GC–MS), provide a comprehensive picture of corticoste...

Bone morphogenic proteins (BMPs) have been demonstrated to impact tumorigenesis in a variety of tumors. As for the adrenal cortex, BMP6 has been implicated as an important modulator of aldosterone secretion. To screen for alterations of BMP dependent pathways in adrenal tumorigenesis we performed gene profiling experiments. By comparing human adrenal carcinoma (ACC) against normal adrenal glands (Co) we detected a down-regulation of various BMPs (e.g. BMP2, BMP5) which was fur...

The adrenal gland displays an important role in integrating neuronal, immune, vascular, metabolic and endocrine signals under a common organ capsule. The adrenal is the central organ of the stress response system, responsible for responses to acute and chronic stress stimuli and, thereby, playing a major role in numerous stress-related disorders. While for other diseases translational scientists developed programs to generate healthy cells to regenerate damaged tissues in pati...