hrp0082p1-d1-207 | Reproduction | ESPE2014

Analysis of the WDR11 Gene in Patients with Isolated Hypogonadotropic Hypogonadism with and without Olfactory Defects

Silveira Leticia FG , Montenegro Luciana R , Costa Elaine MF , Latronico Ana C

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...