hrp0086p1-p348 | Gonads & DSD P1 | ESPE2016

Exonic Splicing Mutations by Silent Nucleotide Variation in the Androgen Receptor Gene Causes Androgen Insensitivity Syndrome

Loch Batista Rafael , de Santi Rodrigues Andreza , Evilen da Silva Tathiana , Siqueira Cunha Flavia , Lisboa Gomes Nathalia , Rodrigues Daniela , Domenice Sorahia , Frade Costa Elaine , Bilharinho de Mendonca Berenice

Background: Androgen Insensitivity Syndrome is a common form of 46,XY DSD. In the literature, 85–90% of patients with complete form of Androgen Insensitivity (CAIS) and 30% of patients with parcial form (PAIS) have the AR gene mutation identified, In most cases are found a missense mutation with aminoacid change. Mutations without aminoacid changes (silent mutations) are rarely related to human diseases and have never been identified in patients with CAIS.<p class="ab...

hrp0092p1-270 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Large Spectrum of DSD Phenotype Caused by Pathogenic Variants in Wilms Tumor Suppressor Gene 1

Ferrari Maria Tereza Martins , Domenice Sorahia , Mendonça Berenice Bilharino , Moraes Daniela Rodrigues , Batista Rafael Loch , Gomes Nathalia Lisboa , Nishi Mirian Yumie , Sircili Maria Helena , Paula Tatiana Evelin , Costa Eduardo , Costa Elaine Maria Frade

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...

hrp0092p3-219 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Final Adult Height in SRY-Negative 46,XX Ovotesticular Differences of Sex Development Individuals

Martins Ferrari Maria Tereza , Moraes Rodrigues Daniela , Lisboa Gomes Nathalia , Yumi Nishi Mirian , Loch Batista Rafael , Maria Frade Costa Elaine , Bilharinho Mendonca Berenice , Domenice Sorahia , Marques Cruz Patricia Sales , Sircili Maria Helena

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...