THU160 A Prospective Genetic Analysis Of Children With Idiopathic Short Stature (ISS) Using Whole-exome Sequencing (WES): First Results

Disclosure: L.D. Cellin: None. N.L. Menezes De Andrade: None. R.C. Rezende: None. V. Souza: None. N.C. Dantas: None. E. Quedas: None. M.F. Funari: None. G. Vasques: None. R.D. Scalco: None. A.C. Malaquias: None. A. Jorge: Consulting Fee; Self; Novo Nordisk. Grant Recipient; Self; BioMarin. Introduct...

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Published in:Journal of the Endocrine Society 2023-10, Vol.7 (Supplement_1)
Main Authors: de Polli Cellin, Laurana, Menezes De Andrade, Nathalia Liberatoscioli, Rezende, Raíssa Carneiro, Rezende, Raíssa, Souza, Vinicius, Branco Dantas, Naiara Castelo, Quedas, Elisangela, de Assis Funari, Mariana Ferreira, Vasques, Gabriela, Da Cunha Scalco, Renata, Malaquias, Alexsandra C, Jorge, Alexander
Format: Article
Language:English
Subjects:
Pediatric Endocrinology
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Summary:Disclosure: L.D. Cellin: None. N.L. Menezes De Andrade: None. R.C. Rezende: None. V. Souza: None. N.C. Dantas: None. E. Quedas: None. M.F. Funari: None. G. Vasques: None. R.D. Scalco: None. A.C. Malaquias: None. A. Jorge: Consulting Fee; Self; Novo Nordisk. Grant Recipient; Self; BioMarin. Introduction: Children classified as idiopathic short stature (ISS) may have a monogenic cause that can explain their growth disorder. In this context, genetic tests emerge as a new diagnostic tool. Objectives: To determine the usefulness of WES for the genetic investigation of children with ISS. Patients and Methods: We sequentially enrolled 95 children with ISS without previous genetic testing, except for karyotyping for girls. In WES analysis, we prioritized rare variants (MAF
ISSN:2472-1972
2472-1972
DOI:10.1210/jendso/bvad114.1411