Endocrine Abstracts

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...

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...

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...