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...

hrp0086p1-p369 | Gonads &amp; 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...

hrp0086p1-p348 | Gonads &amp; 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...

hrp0082p1-d3-100 | Sex Development | ESPE2014

Quality of Life in a Large Cohort of Adult Brazilian Patients with 46,XX and 46,XY Disorders of Sex Development from a Single Tertiary Centre

Amaral Rita , Inacio Marlene , Brito Vinicius , Bachega Tania , Oliveira Ari , Domenice Sorahia , Denes Francisco , Sircilli Maria Helena , Arnhold Ivo , Madureira Guiomar , Gomes Larissa , Costa Elaine , Mendonca Berenice

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

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...

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)....

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...

hrp0094p2-399 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures

Lousada Lia , Domenice Sorahia , MF Costa Elaine , ASS Bachega Tania , Madureira Guiomar , Inacio Marlene , Helena P Sircili Maria , T Denes Francisco , Mendonca Berenice B ,

Introduction: DSD patients present varied degrees of atypical genitalia. The social sex assignment and the surgery decisions must be proceeded by a multidisciplinary team approach with the family. Surgeries should be only performed by experienced surgeons. The current trend is the early correction, but some patients and non-governmental entities argue that the surgeries should be delayed until the patient’s consent.Objective...

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...