hrp0084p1-114 | Puberty | ESPE2015

Screening of Mutations in Idiopathic Hypogonadotropic Hypogonadism Using a Targeted Next-Generation Sequencing Approach

Kolodkina Anna , Kareva Maria , Kalinchenko Natalia , Raygorodskaya Nadezhda , Malievsky Oleg , Fidelina Olga , Vasilyev Evgeny , Petrov Vasily , Naumova Maria , Tiulpakov Anatoly

Background: To date at least 30 genes are known to be associated with idiopathic hypogonadotropic hypogonadism (IHH). Analysis of all these gene candidates by Sanger sequencing would be expensive, labour-intensive and time-consuming. Recent introduction of next-generation sequencing (NGS) enables simultaneous analysis of multiple gene targets making it an attractive approach in such conditions as IHHObjective and hypotheses: To study the spectrum of mole...