hrp0082fc13.3 | Thyroid | ESPE2014

Overexpression of Supressor Tumoral PTEN, but not DREAM, was Detected in Multinodular Goiter in Humans

Shinzato Amanda , Lerario Antonio M , Danilovic Debora S , Marui Suemi , Lin Chin J , Trarbach Ericka B

Background: A high proliferative status of thyroid follicular cells and goiter were observed in mutants mice with Pten−/− or Dream overexpression. In humans, patients with Cowden disease have goiters or other thyroid abnormalities associated with germ-line PTEN mutations.Objective and Hypotheses: The aim of this study was to investigate the tissue expression of PTEN and DREAM, as well as germ-line ...

hrp0082p1-d1-236 | Thyroid | ESPE2014

Genome-Wide Promoter Methylation Analysis in Cytologically Indeterminate Thyroid Nodules

Trarbach Ericka B , Shinzato Amanda , Lin Chin J , Marui Suemi , Lerario Antonio M

Background: Differentiating potentially malignant thyroid nodules among those undetermined by cytology avoid unnecessary surgical procedures. Aberrant DNA methylation is ubiquitous in human cancers, including thyroid tumors. Biomarkers based on methylation profiles have been successfully used to diagnose early stage malignancy in many human cancers.Objective and hypotheses: To determine the genome-wide promoter methylation status of cytologically indeter...

hrp0086fc7.6 | Gonads & DSD | ESPE2016

Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure

Franca Monica , Funari Mariana , Nishi Mirian , Domenice Sorahia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using Next-Generation Sequencing (NGS).<p class="abstex...

hrp0086rfc6.2 | Syndromes: Mechanisms and Management | ESPE2016

RAB3IP and DGCR8 as a Potentially Pathogenic Novel Candidate Gene Involving in Growth Disorders

Homma Thais , Funari Mariana , Lerario Antonio , Freire Bruna , Nishi Mirian , Yamamoto Guilherme , Naslavsky Michel , Zatz Mayana , Arnhold Ivo , Jorge Alexander

Background: The majority of children with short stature are classified as idiopathic short stature. Whole exome sequencing can help identify genetic causes of short stature.Methods: We recruited 10 children with short stature of unknown etiology. We conducted whole exome sequencing of the patients and their family members. We used an analysis pipeline to identify rare nonsynonymous genetic variants that might cause the short stature. All rare allelic var...

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...

hrp0084lbp-1261 | Late Breaking Posters | ESPE2015

POLR3H Variant is Associated with Primary Ovarian Failure in Two Families

Franca Monica , Funari Mariana , Domenice Sorahia , Nishi Mirian , Costa Elaine , Gontijo Leticia , Latronico Ana Claudia , Jorge Alexander , Lerario Antonio , Mendonca Berenice

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

hrp0086rfc14.4 | Growth : Mechanisms | ESPE2016

Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

Nakaguma Marilena , de Lima Jorge Alexander Augusto , de Assis Funari Mariana Ferreira , Lerario Antonio Marcondes , de Azevedo Correa Fernanda , de Carvalho Luciani Renata Silveira , de Mendonca Berenice Bilharinho , Arnhold Ivo Jorge Prado

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

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...

hrp0089fc8.5 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

DEAH-Box Helicase 37defects (DXH37) Deffects are a Novel Cause of 46,XY Gonadal Dysgenesis

Gomes Nathalia , Silva Thatiana , Lerario Antonio , Batista Rafael Loch , Junior Jose Antonio Faria , Moraes Daniela , Costa Elaine Maria Frade , Nishi Mirian , Carvalho Luciani Renata , Forclaz Maria Veronica , Papazian Regina , Martinez-Aguayo Alejandro , de Paula Leila Pedroso , Carvalho Filomena Marino , Vilain Erick , Barseghyan Hayk Barseghyan , Keegan Catherine , Domenice Sorahia , Mendonca Berenice Bilharinho

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...