AUTHOR=Castro Sebastián , Brunello Franco G. , Sansó Gabriela , Scaglia Paula , Esnaola Azcoiti María , Izquierdo Agustín , Villegas Florencia , Bergadá Ignacio , Ropelato María Gabriela , Martí Marcelo A. , Rey Rodolfo A. , Grinspon Romina P. TITLE=Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report JOURNAL=Frontiers in Pediatrics VOLUME=10 YEAR=2022 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.887658 DOI=10.3389/fped.2022.887658 ISSN=2296-2360 ABSTRACT=
Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general illnesses and primary testicular failure are ruled out, the main differential diagnosis is central (or hypogonadotropic) hypogonadism, resulting from a defective function of the gonadotropin-releasing hormone (GnRH)/gonadotropin axis. Ciliopathies arising from defects in non-motile cilia are responsible for developmental disorders affecting the sense organs and the reproductive system. WDR11-mediated signaling in non-motile cilia is critical for fetal development of GnRH neurons. Only missense variants of