hrp0084p2-539 | Puberty | ESPE2015

GnRH Infusion in Females with Hypogonadotropic Hypogonadism

Freire Analia , Arcari Andrea , Grinspon Romina , Ballerini Maria Gabriela , Sanguineti Nora , Bergada Ignacio , Escobar Maria Eugenia , Ropelato Maria Gabriela , Gryngarten Mirta

Background: Hypogonadotropic hypogonadism (HH) in females is an uncommon and heterogeneous condition. There is little data regarding biochemical profile of gonadotropins to further substantiate the diagnosis.Objective: To evaluate the gonadotropaic secretion profile after GnRH infusion in a female cohort diagnosed with HH.Patients and methods: GnRH iv infusion test (0–120 min) were performed in 17 patients (17.5±2.3 years...

hrp0095p2-185 | Growth and Syndromes | ESPE2022

Coexistence of (likely) pathogenic variants in two genes, EZH2 and PTEN, contribute to overgrowth and developmental delay phenotype in a female patient

Suco Sofia , Scaglia Paula , Esnaola Azcoiti Maria , Armando Romina , Braslavsky Debora , Sanguineti Nora , Arberas Claudia , Gabriela Ropelato Maria , Izquierdo Agustin , Bergada Ignacio , Keselman Ana

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

hrp0089p1-p036 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Novel LRP5 Loss-of-function Mutation Causes Osteoporosis-pseudoglioma Syndrome

Braslavsky Debora , Scaglia Paula , Sanguineti Nora , Cassinelli Hamilton , Ruiz Schenstrom Olivia , Armando Romina , Arberas Claudia , Aza-Carmona Miriam , Nevado-Blanco Julian , Daniel Lapunzina-Badia Pablo , Heath Karen E , Rey Rodolfo , Bergada Ignacio

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

hrp0089fc4.1 | GH & IGFs | ESPE2018

Monogenic and Digenic Gene Mutations are Present in Children with Idiopathic Short Stature (ISS)

Sanguineti Nora Maria , Ramirez Laura , Keselman Ana Claudia , Scaglia Paula Alejandra , Ropelato Maria Gabriela , Ballerini Maria Gabriela , Karabatas Liliana , Domene Sabina , Martucci Lucia , Braslavsky Debora , Landi Estefania , Cassinelli Hamilton , Casali Barbara , Rey Graciela Del , Pennisi Patricia , Jasper Hector , Vazquez Martin , Rey Rodolfo , Domene Horacio , Gutierrez Mariana , Bergada Ignacio

Background: Several genetic defects (GHR, SHOX, GHSR, NPR2, IGFALS) have been reported in children classified as ISS. ISS children are GH sufficient and about one third of them show low IGF-I levels, suggesting some degree of GH insensitivity.Objective: To explore potential genetic defects in ISS children suspicious of GH insensitivity, selected by low IGF-I levels and low response to IGF generation test.<...

hrp0089p1-p143 | GH &amp; IGFs P1 | ESPE2018

Severe Pre- and Postnatal Growth Retardation in a Child Harboring a Novel Homozygous IGF1 Gene Mutation

Claudia Keselman Ana , Alejandra Scaglia Paula , Martin Ayelen , Armando Romina , Maria Sanguineti Nora , Gutierrez Mariana , Braslavsky Debora , Gabriela Ballerini Maria , Gabriela Ropelato Maria , Cassinelli Hamilton , Casali Barbara , Del Rey Graciela , Campos Barros Angel , Nevado Blanco Julian , Domene Horacio , Jasper Hector , Arberas Claudia , Rey Rodolfo , Pennisi Patricia , Lapunzina-Badia Pablo , Bergada Ignacio

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...