Endocrine Abstracts

Xavier Bertagna, Cochin Hospital, Paris, France. AbstractXavier Bertagna is Professor of Endocrinology, Chief of the Department of Endocrinology of Cochin hospital, Faculté de Médecine René Descartes, Université Paris, Paris, France.He trained at the Clinical Research Center (Dr. M. Chrétien), Montreal, Canada and at the Endocrine Division, Vanderbilt Medical School (Dr....

Adrenal tumors – like many endocrine tumors – bear two classical threats: hormone hypersecretion and/or oncogenic potential. Also, because they are rare, their recognition may be delayed; and syndromic- or malignant tumors may be misdiagnosed…adding further threats…This talk will concentrate on recent progress brought by genetic studies with the aim of improving our understanding of the pathophysiology of these tumors, our diagnosti...

Many difficulties can be encountered in the management of patients with Cushing’s syndrome or suspected Cushing’s syndrome.In the first step of the diagnosis strategy, establishing the state of chronic hypercortisolism may be hampered by a number of pitfalls: drug interaction (inducers of high CBG levels, liver enzyme inducers, glucocorticoids, antiglucocorticoid RU 486, Glycyrrhetinic acid); intercurrent pathologic states (obesity, thyroid dys...

Drug interactions, intercurrent pathological states may interfere with routine diagnostic tests. Authentic hypercortisolic states can be present without Cushing’s syndrome, such as in depression, anorexia nervosa, alcoholism, pregnancy. Mild forms of Cushing’s syndrome, or fluctuating cases are other usual pitfalls.When the diagnosis of Cushing’s syndrome is firmly established there are still many potential pitfalls in the etiological diag...

Mitogen-activated protein kinase (MAPK) pathway abnormalities, specifically rearrangements (RET/PTC) or activating mutations (RAS or BRAF), are highly prevalent in papillary thyroid carcinomas (PTCs). Constitutive activation of this signaling cascade causes sustained phosphorylation of extracellular signal-regulated kinase (ERK). DUSP5, which is positively regulated by ERK signaling, acts as a negative regulator of its activity. We have previously shown that DUSP5 is overexpre...

Some elegant clinical observations of dysregulated cortisol-secretion in cases of ACTH-independent macronodular hyperplasia (AIMAH) and more rarely adrenocortical adenomas (ACA) have led to the concept of ‘aberrant’ or ‘illegitimate’ membrane receptors (AR) in adrenal Cushing syndrome. It this situation cortisol secretion is regulated by an extra-cellular ligand that usually does not stimulate cortisol secretion in normal adrenals. This abnormal response mi...

Illicit expression of membrane receptors for circulating regulatory factors, such as GIP and LH receptors, has been well documented in ACTH-independent macronodular adrenal hyperplasias (AIMAHs) causing Cushing’s syndrome. In addition, we have observed an abnormal expression of serotonin, arginine vasopressin and ACTH in a subpopulation of steroidogenic cells in two AIMAH tissues. The aim of the present study was: (i) to investigate the presence of ACTH by immunohistochem...

Introduction: MSC is a simple and reliable mean to diagnose hypercortisolism, yet its value to asses the outcome of treatment has rarely been addressed.Objective: Compare MSC and other classical parameters, to assess the outcome of TSS in CD.Patients and methods: Sixty-eight patients from a single Center operated for CD between 1996 and 2006. Outcome was assessed between 6–12 months post TSS. Remission was defined as: morning ...

Semen quality and reproductive hormones may be affected in men with testicular neoplasia (TN) and lymphoproliferative disorders (LD). We evaluated these parameters before, 6, 12 and 24 months after the end of the oncological treatments in 60 patients with TN, and in 35 patients with LD. The patients were divided on the bases of the basal sperm concentration (A< and B≥ 10 million/ml). FSH, LH, testosterone (T) and inhibin B levels and sperm parameters were evaluated i...

CNC is an autosomal dominant multiple neoplasia syndrome, responsible mainly for cardiac myxomas, pigmented skin lesions and endocrine tumors (acromegaly, thyroid and testicular neoplasms and primary pigmented nodular adrenocortical disease: PPNAD). The PRKAR1A gene was previously found to be mutated in about 41% of CNC kindreds. Most mutations lead to nonsens mediated mRNA decay and preclude expression of the mutant protein. 102 patients (64 with PPNAD and 38 with CNC)...