hrp0082p1-d1-233 | Thyroid | ESPE2014

TSH Receptor Gene Variants in Pediatric Patients with Non Autoimmune Hyperthyrotropinemia

Scaglia Paula , Keselman Ana , Papendieck Laura Gruneiro , Papendieck Patricia , Bergada Ignacio , Domene Horacio , Chiesa Ana

Context: Heterozygous mutations in TSH recepter (TSHR) have been described associated with mild TSH resistance characterized by non autoimmune hyperthyrotropinemia (NAH). The prevalence of this condition varies in different reports.Objective: To determine the prevalence of TSHR variants in pediatric NAH.Subjects and methods: Thirty-five non obese unrelated children with NAH (18 girls, aged 1–19 years) were enrolled. A...

hrp0094p2-381 | Pituitary, neuroendocrinology and puberty | ESPE2021

Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis

Rezende Raissa , Jorge Alexander , Noronha Renata , Keselman Ana , Andrade Nathalia , Dantas Naiara , Bertola Debora , Malaquias Alexsandra ,

Introduction: Noonan syndrome (NS) is a relative frequent genetic disorder, mainly characterized by dysmorphic face features, congenital heart defects and short stature. Though delayed pubertal development has been described in both sexes, the physiopathological root remains unclear. This study aims at characterizing puberty development in Noonan syndrome.Materials and Methods: The study population included 111 individuals with a molecul...

hrp0089p1-p147 | GH & IGFs P1 | ESPE2018

Serum IGFBP-2 Concentration in Neonates with Potential Diagnosis of Growth Hormone Deficiency (GHD)

Gabriela Ballerini Maria , Braslavsky Debora , Keselman Ana , Eugenia Rodriguez Maria , Gotta Gabriela , Gabriela Ropelato Maria , Bergada Ignacio

In a retrospective study (1), we found that a GH<6.5 μg/L, IGF-I-WHO87/518 <30 μg/L and IGFBP-3<0.8 μg/mL confirmed GHD diagnosis with high diagnostic accuracy in neonates with clinical suspicion of GHD. GH and insulin negatively regulate IGFBP-2, and it was proposed to reflect GH status in the diagnostic work-out of GHD in childhood and adults. The accuracy of IGFBP-2 has not been set for neonates.Objective: To prospectively v...

hrp0082p2-d1-412 | Growth Hormone | ESPE2014

ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother)

Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Ballerini Maria Gabriela , Domene Sabina , Johanna Acosta , Jasper Hector , Domene Horacio

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

hrp0084p1-110 | Perinatal | ESPE2015

Neonatal Screening Program for Central Congenital Hypothyroidism

Braslavsky Debora , Prieto Laura , Keselman Ana , de Papendieck Laura Gruneiro , Enacan Rosa , Mendez Virginia , Bergada Ignacio , Chiesa Ana

Background: Congenital hypothyroidism (CH) comprises a heterogeneous group of disorders that includes diseases of the hypothalamo-hypophyseal system. The latter are missed on TSH based screening programs leading to increased morbidity and mortality. Additional T4 determinations, allows an early detection of CH of central origin (CH-C).Objective and hypotheses: To report the findings of a neonatal screening program based on determination of TSH...

hrp0082p2-d1-410 | Growth Hormone | ESPE2014

GHR Gene Variants within Coding and Intronic Regions in Children with Idiopathic Short Stature

Ballerini Maria Gabriela , Scaglia Paula , Martinez Alicia , Keselman Ana , Braslavsky Debora , Bergada Ignacio , Jasper Hector Guillermo , Ropelato Maria Gabriela , Domene Horacio

Background: Heterozygous GHR gene variants were found in 5–8% of idiopathic short stature (ISS) children. Frequent polymorphisms within GHR coding regions, but not intronic SNPs, have been investigated in ISS.Objectives: To characterize GHR gene variants in ISS children, and to test their influence on height and the peripheral GH/IGF1/IGFBPs system.Methods: GHR gene (coding/intronic flanking...

hrp0084p2-463 | Growth | ESPE2015

Recurrent IGFALS Gene Mutations p.E35Gfs*17 and p.(L409F; A475V): Hot Spot or Founder Effect?

Scaglia Paula , Sala Andrea , Bergada Ignacio , Braslavsky Debora , Keselman Ana , Espinola-Castro Angela , Domene Sabina , Jasper Hector , Corach Daniel , Domene Horacio

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

hrp0094p1-108 | Adrenal B | ESPE2021

Circadian rhythm of cortisol in saliva in obese children with clinical signs of hypercortisolism

Gabriela Ballerini Maria , Arcari Andrea Josefina , Brenzoni Luciana , Veronica Freire Analia , Eugenia Rodriguez Maria , Amaro Andrea , Bravlavsky Debora , Maggioni Irina , Keselman Ana , Bergada Ignacio , Gabriela Ropelato Maria ,

Due to the increase in prevalence of childhood obesity, more obese children are referred to the endocrinologist for the hypothalamus-hypophysis-adrenal axis assessment. The circadian rhythm (CR) of cortisol in saliva (SAF) may constitute a non-invasive, first line test to exclude hypercortisolism on obese children.Aim: To evaluate possible disturbances of CR of SAF in obese children with clinical signs of hypercortisolism.<p class="a...

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: ...

hrp0092p1-72 | GH and IGFs | ESPE2019

Diagnostic Value of Random Serum Growth Hormone (GH), IGF-I and IGFBP-3 Concentrations for the Diagnosis of Growth Hormone Deficiency (GHD) in Patients Below One Year of Life

Ballerini María Gabriela , Braslavsky Débora , Freire Analía Verónica , Keselman Ana , Rodríguez María Eugenia , Altube Mercedes , Scaglia Paula Alejandra , Bergadá Ignacio , Ropelato María Gabriela

GHD diagnosis in neonates and infants is a challenge owing to the fact that GH pharmacological stimulation tests (GHST) are not approved at this age. In a retrospective study, we found that a random GH<6.5 µg/L confirmed GHD diagnosis in neonates with clinical suspicion of GHD with high diagnostic accuracy (1). The accuracy of GH and its surrogates of action have not been set for infants with current standardized immunoassays.Objective</...