Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0013oc16 | Young Endocrinologist prize session | SFEBES2007

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

Lin Lin , Philibert Pascal , Ferraz-de-Souza Bruno , Kelberman Daniel , Homfray Tessa , Albanese Assunta , Molini Veruska , Sebire Neil , Einaudi Silvia , Jameson Larry , Sultan Charles , Dattani Mehul , Achermann John

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

ea0035s14.1 | Clinical outcome of medical intervention in Disorder of Sex Development (DSD) | ECE2014

dsd-LIFE: clinical European outcome study of disorders of sex development

Kohler Birgit , Arlt Wiebke , Bouvattier Claire , Chatelain Pierre , Grinten Hedi Claahsen van der , Cohen-Kettenis Peggy , Nordenstrom Anna , Pienkowski Catherine , Richter-Unruh Annette , Slowikowska-Hilczer Jolanta , Szarras-Capnik Maria , Reisch Nicole , Sultan Charles , Thyen Ute , Wiesemann Claudia

Disorders of sex development (DSD) include a conglomerate of rare conditions with discrepancy of the chromosomal, gonadal or phenotypic sex. Since the last 2 decades the genetic causes and the pathogenesis have been identified in many patients with DSD. Multidisciplinary clinical care as decision on the sex of rearing, genital surgery, hormone therapies and psychological support has a life-long impact on the affected persons. However, previous clinical outcome studies of DSD w...