hrp0086p1-p355 | Gonads & DSD P1 | ESPE2016

Mutations at the SF-1 Ligand-Binding Domain Can Lead to Different Effects on DNA Binding: Report of Two Novel Mutations

Fabbri Helena Campos , Werner Ralf , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , Andrade Juliana Gabriel Ribeiro de , Hiort Olaf , Mello Maricilda Palandi de

Background: Steroidogenic factor-1 (SF-1), denominated as nuclear receptor subfamily five group A member 1 (NR5A1), is an orphan receptor that regulates several steps of adrenal and gonadal development. Mutations in its gene are responsible for different phenotypes of disorders of sex development (DSD).Objective and hypotheses: To study the functional impact of two novel NR5A1 mutations, the p.C247* and p.K396Rfs*34, both identified within the l...

hrp0086p1-p361 | Gonads & DSD P1 | ESPE2016

Partial and Mixed Gonadal Dysgenesis Cannot be Distinguished by Histological Picture: Clinical Evaluation, Histological Differences and Long-Term Follow up of 61 Brazilian Patients

de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , dos Santos Ana Paula , de Faria Antonia Paula Marques , Mello Maricilda Palandi , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

hrp0082lbp-d3-1001 | (1) | ESPE2014

Histological Evaluation of Patients with Partial Gonadal Dysgenesis and NR5A1 Mutations: Review in Leydig and Germ Cell Pattern

de Andrade Juliana Gabriel Ribeiro , Werner Ralf , Fabbri Helena Campos , Guerra-Junior Gil , Maciel-Guerra Andrea Trevas , de Mello Maricilda Palandi , Holl-Ulrich Konstanze , Hiort Olaf

Background: Recent data describe that the gonads of patients with partial gonadal dysgenesis (PGD) and mutation in the NR5A1 gene can present with a different histological pattern.Objective and hypotheses: To evaluate histological aspects of PGD caused by NR5A1 mutations.Method: Five patients with PGD, a history of gonadal biopsy or gonadectomy and confirmed mutation on NR5A1 gene were selected from a Bra...

hrp0086p1-p337 | Gonads & DSD P1 | ESPE2016

46,XY Partial Gonadal Dysgenesis Caused by an Xp21.2 Interstitial Duplication that Does not Encompass the NR0B1 Gene

dos Santos Ana Paula , Piveta Cristiane dos Santos Cruz , de Andrade Juliana Gabriel Ribeiro , Fabbri Helena Campos , Lopes Vera Lucia Gil da Silva , Junior Gil Guerra , Guerra Andrea Trevas Maciel , Mello Maricilda Palandi

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...