hrp0086p1-p369 | Gonads & DSD P1 | ESPE2016

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Accordingly Gender Assignment

Gomes Nathalia , Costa Elaine , Zamboni Aline , Nishi Mirian , Batista Rafael , Cunha Flavia , Inacio Marlene , Domenice Sorahia , Mendonca Berenice

Background: Studies on the follow-up of 46,XY partial gonadal dysgenesis (PGD) patients till adulthood are scarce and it is important to provide information to parents on the prognosis of gonadal dysgenesis.Objective and hypotheses: To analyze the long term outcomes of 46XY PGD patients in both social sexes regarding testosterone production, social sex adaption and genotype.Method: Retrospective longitudinal study conducted at Hosp...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

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....

hrp0097p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Mechanism of mutagenesis and phenotype implications of small indels in the Androgen Receptor gene in Androgen Insensitivity Syndrome

Loch Batista Rafael , Ramos Raquel , Caroline Afonso Ana , Petroli Reginaldo , Tereza Ferrari Maria , Domenice Sorahia , Nishi Mirian , Mendonca Berenice

Indels are highly abundant in human genomes and have contributed massively to genome evolution. However, the role of indels and their underlined mechanisms of mutagenesis in Mendelian disorders still needs to be appreciated. To explore the contribution of indels in a monogenic disorder, we analyzed all indels already described in the AR gene, including three novel indels found in our cohort. We analyzed the indel distribution through the AR coding region, compared wit...

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...

hrp0086lbp2 | (1) | ESPE2016

Sexual Outcomes in Brazilian Patients with 46,XY DSD

Batista Rafael Loch , Inacio Marlene , Cunha Flavia Siqueira , Gomes Nathalia Lisboa , Brito Vinicius Nahime , Costa Elaine Frade , Domenico Sorahia , de Mendonca Berenice Bilharinho

Background: Outcomes related to sexual life are poorly explored in 46,XY DSD patients and most studies focus only in 46,XX DSD (CAH). In 46,XY DSD the observations of sexual outcomes are scares, but they overall indicate that the SexQoL is impaired, particularly regarding sexual function and sexual satisfaction.Objective and hypotheses: To evaluate sexual outcomes in a cohort of patients with 46,XY in adulthood and compare these observations with the res...

hrp0084fc6.5 | Gonads &amp; DSD | ESPE2015

Characterisation of Mutations in the Androgen Receptor Identified in 38 Brazilian Families with Complete or Partial Androgen Insensitivity Syndrome

Batista Rafael Loch , Santi Andreza , Arnhold Ivo J P , Cunha Flavia S , Costa Elaine M F , Mendonca Berenince B , Domenice Sorahia

Background: Androgen insensitivity syndrome (AIS) is a genetic disease X-linked, caused by functional abnormalities of the androgen receptor (AR). Mutations in the AR are associated with broad phenotypic spectrum from partial insensibility (PAIS) to complete insensitivity (CAIS).Objective and hypotheses: To characterize the mutations (MUT) identified in the AR in 38 Brazilian families with AIS. The MUT were analyzed considering their type, location in th...

hrp0094p2-398 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

Antonio Diniz Faria Junior Jose , R. Moraes Daniela , L. Batista Rafael , Gomes Lisboa Natalia , D. Kulikowski Leslie , Y Nishi Miriam , B Mendonca Berenice , Domenice Sorahia ,

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

hrp0094p2-420 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Gonadal tumor risk, bone mineral density, and genetics, clinical, hormonal, and psychosexual aspects of a large androgen insensitivity syndrome cohort

Batista Rafael Loch , Ramos Raquel Martinez , Nishi Miriam , Dallago Renata , Elias Felipe , Rodrigues Andresa di Santi , Domenice Sorahia , Mendonca Berenice B

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

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...