hrp0089p3-p346 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovotesticular Disorder of Sexual Development: 31 Cases Followed-up in a Single-Center in Brazil

Melardi Julia , Cunha Diego , Ferreira Marianna , Brigatti Nathalia , Carvalho Filomena , Cominato Louise , Steinmetz Leandra , Damiani Durval

The Ovotesticular Disorder of Sexual Development (OT DSD) is a rare condition characterized by histologic demonstration of both ovarian and testicular tissue in the same individual. Descriptions in literature usually have small samples and do not include patient evolution data. The aim of this study is to describe clinical, biochemical and histological findings, as well as long-term outcomes (including onset and progression of puberty) in patients with OT DSD, accompanied betw...

hrp0097p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Magnetic Resonance Imaging (MRI) Findings and Predictive Factors of Gonadal Neoplasia in Complete Androgen Insensitivity Syndrome

Loch Batista Rafael , Coelho Fernando , Craveiro Flora , Dallago Renata , Domenice Sorahia , Viana Publio , Dantas Patricia , Carvalho Filomena , Mendonca Berenice

Introduction: Complete Androgen Insensitivity Syndrome (CAIS) is characterized by a complete external genitalia appearance and testicular development in 46,XY individuals harboring pathogenic allelic variants in the AR gene. Due to growing evidence regarding the low risk of germ cell tumors (GCT) in AIS. Prophylactic gonadectomy has been debatable in the CAIS management, mainly due to the absence of an accurate biomarker for GCT....

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...