hrp0086p2-p396 | Gonads & DSD P2 | ESPE2016

Hypogonadotropic Hypogonadism in a Girl with 2p11.2–2q12.1 Duplication

Bianconi Martina , Scalini Perla , Maccora Ilaria , de Martino Maurizio , Megna Paolo , Stagi Stefano

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...