Searchable abstracts of presentations at key conferences in endocrinology

ea0014s5.1 | Novel bioactive peptides – lessons from animals | ECE2007

Discovery of novel bioactive peptides: the uniquely important contribution of amphibians to mammalian neuropeptidology

Vaudry Hubert , Tostivint Hervé , Lihrmann Isabelle , Chartrel Nicolas , Fournier Alain , Leprince Jérôme , Tonon Marie-Christine , Conlon J. Michael

The concentration of many neuropeptides in the brains of ectothermic vertebrates is several orders of magnitude higher than in the brains of mammals. We have taken advantage of this singular situation to isolate from the brain of the European green frog, Rana esculenta, a number of regulatory peptides that are orthologous to mammalian neuroendocrine peptides. These include α-MSH, γ-MSH, two tachykinins, two GnRH variants, CRH, PACAP, NPY, CGRP, CNP, GRP, and O...

ea0014s8.1 | Advances in adrenal hypersecretory disorders | ECE2007

Autocrine-paracrine pathways in primary adrenal disorders

Lefebvre Hervé , Contesse Vincent , Cartier Dorthe , Perraudin Véronique , Delarue Catherine , Vaudry Hubert , Bertherat Jérôme , Plouin Pierre-François , Kuhn Jean-Marc , Louiset Estelle

It is now well demonstrated that, in the human adrenal gland, aldosterone and cortisol productions are stimulated by autocrine/paracrine factors, like serotonin (5-HT) and arginine vasopressin (AVP). Several data indicate that these signals may also be involved in the regulation of corticosteroidogenesis in adrenocortical hyperplasias and tumors. 5-HT is detected in clusters of steroidogenic cells in aldosterone-producing adrenocortical adenomas (APAs), and in both ACTH-indepe...

ea0011p586 | Neuroendocrinology and behaviour | ECE2006

Clinical significance of macroprolactin

Álvarez-Vázquez P , Rodríguez Pérez D , Álvarez García E , Páramo Fernandez C , Hervás Abad E , Andrade Olivié MA

Introduction: Macroprolactin (maPRL) is a high molecular weight variant of prolactin (PRL) which has reduced bioactivity. The purpose of the present study was to determine the clinic-analytical repercussion of the presence of maPRL in patients with hyperprolactinaemia.Patients and methods: A polyethylene glycol (PEG) precipitation test was used to detect the presence of maPRL in all consecutive samples with prolactin levels >50 ng/ml (1060 mUIL). A r...

ea0070oc7.1 | Endocrine-related Cancer | ECE2020

Is Carney complex a breast cancer predisposing syndrome? prospective study of 50 women

Vaduva Patricia , Espiard Stéphanie , Jouinot Anne , Vantyghem Marie-Christine , Assié Guillaume , Catherine Cardot-Bauters , Raverot Gerald , Sylvie Hieronimus , Francoise Archambeaud , Hervé Lefebvre , Laure Nunes , Tabarin Antoine , Anne Lienhardt , Groussin Lionel , Guignat Laurence , Fideline Bonnet , North Marie-Odile , Bertherat Jerome

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...

ea0070aep12 | Adrenal and Cardiovascular Endocrinology | ECE2020

Identification of clinical parameters predictive of ARMC5 mutation in a large cohort of primary bilateral macronodular adrenal hyperplasia (PBMAH) patients.

Bouys Lucas , Vaczlavik Anna , Vaduva Patricia , Espiard Stéphanie , Assié Guillaume , Libe Rossella , Perlemoine Karine , Ragazzon Bruno , Guignat Laurence , groussin Lionel , Olivier Chabre , Sophie Christin-Maitre , Hervé Lefebvre , Raffin-Sanson Marie-Laure , Vantyghem Marie-Christine , Cole Trevor , Beuschlein Felix , Quinkler Marcus , Angelousi Anna , brue Thierry , Sadoul Jean-Louis , Agapito Ana , Tabarin Antoine , Borson-Chazot Francoise , Kroiss Matthias , Arlt Wiebke , Chanson Philippe , Reincke Martin , North Marie-Odile , Bertherat Jerome

Introduction: PBMAH is a rare but heterogeneous disease, characterized by multiple benign adrenal macronodules with variable levels of cortisol excess. In 2013, our team discovered germline heterozygous inactivating mutations of ARMC5, acting as a tumor suppressor gene. ARMC5 mutation rate is 50% in patients with PBMAH treated by adrenalectomy for severe hypercortisolism, 80% in familial cases and 20% in sporadic cases according to the current literature. The...

ea0014p204 | (1) | ECE2007

Clinical presentation of nonclassic congenital adrenal hyperplasia &br;(NC-CAH): from suspicion to diagnosis

Román Anna Casteràs , Fernández Ma Concepción Páramo , Aguado Javier De la Fuente , Abad Elena Hervás , Rodríguez Laura Fajar , Gil Beatriz Mantiñán , Cano Reyes Luna , Iraeta Ma Antonia Rego , Rodríguez Digna , Lestón Domingo González , García-Mayor Ricardo Víctor

Background: Nonclassic congenital adrenal hyperplasia (NC-CAH) caused by mutations in CYP21B gene is an inherited disorder with various clinical forms in relation to the 21-hydroxylase (21OH) activity. Classic forms are recognized early during neonatal period as salt-wasting crisis or genital ambiguity, while non-classic form presents later with wide hyperandrogenic spectrum. Genetic testing has proved to be the definitive diagnostic method.Aim: To obser...