hrp0086p1-p817 | Syndromes: Mechanisms and Management P1 | ESPE2016

Silver-Russell Syndrome with 11p15 Epimutation: Clinical Analysis of Adrenarche, Central Puberty and Body Mass Index in a Cohort of French Children

Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, a typical phenotype and feeding difficulties. It is related to 11p15 ICR1 hypomethylation in up to 50% of the cases. Some patients may exhibit signs of early puberty or premature adrenarche, including premature pubarche and/or an exaggerated adrenarche (high dehidroepyandrosterone sulfate (DHEAS) levels for chronological age). Despite early feeding difficulties, some ch...

hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

hrp0086fc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology

Canton Ana , Homma Thais , Furuya Tatiane , Roela Rosimeire , Arnhold Ivo , Jorge Alexander

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0089rfc9.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes

Canton Ana , Brito Vinicius , Montenegro Luciana , Ramos Carolina , Macedo Delanie , Bessa Danielle , Cunha Marina , Jorge Alexander , Mendonca Berenice , Latronico Ana Claudia

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

hrp0089p1-p177 | Growth & Syndromes P1 | ESPE2018

Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature

Homma Thais , Freire Bruna , Ronjo Rachel , Dauber Andrew , Funari Mariana , Lerario Antonio , Arnhold Ivo , Canton Ana , Sugayama Sofia , Bertola Debora , Kim Chong , Malaquias Alexsandra , Jorge Alexander

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...

hrp0089p1-p181 | Growth & Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0095p1-545 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

X-Linked Central Precocious Puberty Associated with MECP2 defects

Canton Ana , Tinano Flavia , Guasti Leonardo , Montenegro Luciana , Ryan Fiona , Shears Deborah , Edna Melo Maria , Gomes Larissa , Piana Mariana , Brauner Raja , Espino Rafael , Escribano-Muñoz Arancha , Paganoni Alyssa , Korbonits Marta , Eduardo Seraphim Carlos , Faria Aline , Costa Silvia , Cristina Krepischi Ana , Jorge Alexander , David Alessia , Argente Jesús , Mendonca Berenice , Brito Vinicius , Howard Sasha , Claudia Latronico Ana

Background: Genetic causes of central precocious puberty (CPP) has been increasingly recognized, extending our knowledge of the triggering factors of human pubertal timing. Distinct etiologies remain to be elucidated in sporadic and familial cases. Methyl-CpG-binding protein 2 (MECP2) is a chromatin-associated protein that can activate or repress gene transcription, playing a role in neuronal maturation. It is encoded by MECP2 gene located at chromoso...