We developed CHH_vd, a publicly available database of genetic variants linked to Congenital Hypogonadotropic Hypogonadism, and CHH_vip, a computational tool for variant interpretation. Analysis of 352 studies identified substantial genetic heterogeneity and refined variant classifications, improving diagnostic accuracy and supporting faster, more reliable genetic testing and personalized patient care in CHH.
Cita: Brunello FG, Castro S, Zaiat J, Sansó G, Izquierdo A, Urrutia M, Rey RA, Martí M, Grinspon RP, Tellechea ML. Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis. Hum Mol Genet. 2026;35(5):ddag007. doi: 10.1093/hmg/ddag007.
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