IMPE Abstracts

The genetic defects underlying hypogonadotrophic hypogonadism (HH) are known in approximately 50% of cases. In normosmic patients, abnormal GnRH production or action may be due to defects in regulatory factors or in the genes encoding GnRH or GnRHR. Although many gene variants have been described in GNRHR (4q13.2), the potential impact of structural alterations of the resulting mutant proteins have not been studied. In this study, we analysed the 3D-structure of the variant Gn...