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

• Main Authors: Sebastián Castro (Author), Franco G. Brunello (Author), Gabriela Sansó (Author), Paula Scaglia (Author), María Esnaola Azcoiti (Author), Agustín Izquierdo (Author), Florencia Villegas (Author), Ignacio Bergadá (Author), María Gabriela Ropelato (Author), Marcelo A. Martí (Author), Rodolfo A. Rey (Author), Romina P. Grinspon (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 fr...