hrp0095p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analysis of the GHR gene poly¬morphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis.

Celeste Mattone Maria , Perez Garrido Natalia , Costanzo Mariana , Hidalgo Lorena , Berger Malena , Zoff Luciana , Sonia Baquedano Maria , Ramirez Pablo , Berensztein Esperanza , Ciaccio Marta , Marino Roxana , Belgorosky Alicia , Guercio Gabriela

Background: Being born small for gestational age (SGA) is an associated condition to nonspecific 46,XY DSD (without molecular diagnosis and with no specific disorders of undermasculinization). However, the underlying mechanism of the relationship between the presence of genital abnormalities and intrauterine growth restriction is unknown. The GH-IGF system is crucial for sex differentiation in mice and in humans, members of this system were detected in embryon...