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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204026/
https://www.ncbi.nlm.nih.gov/pubmed/35722485
http://dx.doi.org/10.3389/fped.2022.887658

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