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hrp0097rfc13.4 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes

de Azevedo Correa Fernanda , Habibi Imen , Kolesinska Zofia , Zouaghi Yassine , Zhai Jing , Phan-Hug Franziska , Antoniou Maria-Chiristina , Pignatelli Duarte , Lang-Muritano Mariarosaria , Marek Niedziela , l'Allemands Dagmar , Papadakis Georgios , Ameti Adelina , Messina Andrea , J. Niederlander Nicolas , Boizot Alexia , Santoni Federico , S. Acierno James , Pitteloud Nelly

Background: Congenital Hypopituitarism (CH) is a rare heterogeneous genetic disorder characterized by the deficiency of pituitary hormones. CH can be associated with extra pituitary phenotypes such as midline craniofacial malformations. To date, a minority of patients carry pathogenic variants in more than 30 genes, and thus more than 80% of cases remain unresolved.Objective: To identify de novo pathogenic variants in no...

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Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes

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