Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

ea0099oc1.1 | Oral Communications 1: Reproductive and Developmental Endocrinology | ECE2024

Hypospadias is linked to genetic susceptibility to the environment through oncogenes and its incidence is geographically correlated to that of cancers worldwide

Kalfa Nicolas , Bergougnoux Anne , Philibert Pascal , Servant Fauconnet Nadege , Faure Alice , Breaud Jean , Gaspari Laura , Sultan Charles , Paris Francoise

Background: The etiology of hypospadias may be at the crossroad of genetics and environment. The study of these factors taken individually failed to find an unequivocal explanation in most cases. But the interactions between exposure to endocrine disruptors chemicals (EDC) and genetic background have not yet been studied. We thus aimed to find a genetic susceptibility to the environment in hypospadias.Methods: Through a multicenter prospective comparativ...

ea0099rc1.1 | Rapid Communications 1: Reproductive and Developmental Endocrinology | ECE2024

Comparative study of the legal framework for the medical care of people with differences of sex developmental (DSD) across the world

Kalfa Nicolas , Drzewiecki Beth , Braga Luis , Castagnetti Marco , Birraux Jacques , Fossum Magdalena , Springer Alexander , Nieuwhof-Leppink Anka , Lopez PJ , Cherian Abraham , Hoebeke Piet , Vialla Clementine , Paris Francoise , Vialla Francois

Purpose: Some countries have introduced legislation to regulate medical practices regarding DSD. We performed an international comparative law study to better understand how to integrate our medical decisions into these regulations.Material and Methods: With an international medical law research unit 1- we extracted legislative texts, decrees, ministerial recommendations from different countries 2- we sent a questionnaire to surgeons caring for DSD-child...