hrp0092rfc8.4 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes

Malaquias Alexsandra C. , Noronha Renata M , Homma Thais K , Albuquerque Edoarda V A , Bertola Debora R , Jorge Alexander A L

Background: Noonan syndrome (NS) is a rare genetic disease characterized by facial dysmorphism, short stature, heart defects, chest deformities, and variable developmental delay/learning disabilities. Almost 80% of patients have a mutation in the genes encoding components of the RAS/MAPK pathway. Puberty was described as delayed in NS patients, but few studies are focusing on this subject and genotype-phenotype correlations so far.<s...

hrp0094p2-87 | Bone, growth plate and mineral metabolism | ESPE2021

A rare presentation of Dysplasia Epiphysealis Hemimelica combined with Familial Hypocalciuric Hypercalcemia – Is this association possible?

Toledo Arthur H. T. , Diesendruck Benjamin , Rodrigues Marcela , Baches Jorge Rafael , Akkari Miguel , Santili Claudio , Baratela Wagner A. R. , Goiano Ellen de Oliveira , Malaquias Alexsandra C. ,

Background: Familial Hypocalciuric Hypercalcemia (FHH) type 1 is a benign condition of hypercalcemia with autosomal dominant inheritance caused by pathogenic variants in the calcium-sensing receptor gene (CASR). CaSR plays a crucial role in the regulation of calcium balance. Inactivating mutations in CASR result in altered calcium-sensing and inappropriate parathyroid hormone (PTH) release concerning the calcium concentration. Dysplasia Epiph...

hrp0089fc15.4 | Growth and Syndromes | ESPE2018

The Metabolic Profile Associated with RASopathies

Noronha Renata , Homma Thais , Moraes Michelle , Albuquerque Edoarda , Funari Mariana , Pereira Alexandre , Villares Sandra , Bertola Debora , Jorge Alexander , Malaquias Alexsandra

Background: Noonan syndrome (NS) is a frequent autosomal dominant disorder characterized by facial dysmorphisms, heart defects, short stature and learning disabilities. It is caused by mutations in genes within the RAS/MAPK signaling pathway, thus called RASopathies. The RAS/MAPK pathway can also impact the signal transduction of hormones involved in body weight, carbohydrate, and lipid metabolism features scarcely studied only in animal models. This study aimed to describe me...

hrp0084p3-944 | GH &amp; IGF | ESPE2015

The Impact of GH Therapy in Noonan Syndrome Children with Identified Mutations in RAS/MAPK Pathway

Malaquias Alexsandra , Moraes Michelle , Funari Mariana , Pereira Alexandre , Bertola Debora , Jorge Alexander

Objective: To evaluate the response to recombinant human GH (rhGH) treatment in NS children with short stature and previously identified mutations in the RAS/MAPK pathway genes.Methods: 23 patients with NS (17 males; 19 PTPN11, 3 RAF1 e 1 SHOC2) were daily treated with rhGH (mean rhGH dose of 47 μg/kg per day). The main outcome measures were 1st year growth velocity, change in height SDS (Noonan syndrome specifi...

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-p177 | Growth &amp; 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...

hrp0094fc3.4 | Growth Disorders | ESPE2021

Prospective genetic analysis by a targeted gene panel of a cohort of patients classified as idiopathic short stature (ISS)

Andrade Nathalia , Funari Mariana , Lerario Antonio , Malaquias Alexsandra , Solberg Paulo , Lisboa Nathalia , Rayol Micheline , Dantas Naiara , Rezende Raissa , Lucheze Bruna , Quedas Elisangela , Krepischi Ana , Arnhold Ivo , Vasques Gabriela , Jorge Alexander ,

Introduction: The majority of children with short stature are classified as ISS by the absence of findings that could elucidate the cause of their growth impairment. Several monogenic defects have already been identified in children with ISS, but the candidate gene approach is not feasible when there are no specific findings to guide a specific genetic test.Objective: To evaluate the diagnostic yield of a targeted gene p...

hrp0084fc13.2 | Thyroid | ESPE2015

Analysis of Chosen Polymorphisms rs2476601 A/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 A/G – TSHR in Pathogenesis of Autoimmune Thyroid Diseases in Children

Goralczyk Aleksandra , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam , Bossowski Artur

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

hrp0084p3-746 | Diabetes | ESPE2015

Residual C-Peptide in Paediatric Patients with Type 1 Diabetes

Martin-Frias Maria , Oyakawa Yoko P , Alonso Milagros , Roldan Belen , Alvarez M Angeles , Barrio Raquel

Background: Preservation of C-peptide is important and has become regarded a relevant endpoint as already a quite small residual C-peptide seems to be related to both less acute and late diabetes complications.Objective: To assess the residual C-peptide secretion in pediatric patient with T1D.Method: Cross-sectional study of 157 patients with T1D. We analyzed: age at diagnosis, age at time of study (years), sex, diabetes duration (...

hrp0092p1-293 | Thyroid (1) | ESPE2019

Genetic Susceptibility to Hashimito's Thyroiditis in Children: Analysis of Polymorphisms rs7093069 – IL2RA, rs5742909 – CTLA 4, rs7138803 – FAIM2

Goralczyk Aleksandra

Background: Hashimito's Thyroiditis is influenced by genetic and environmental factors. Interleukin-2 receptor alpha chain (IL2RA) gene polymorphism and Cytotoxic T-lymphocyte antigen 4 (CTLA 4) gene polymorphism are known to be associated with HT, but have not been established in a Caucasian children population yet. The Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene polymorphisms impact on the development of HT in children has not been reported yet....