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...

hrp0092rfc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Investigation of Imprinting Alterations in MKRN3 and DLK1 in a Cohort of Girls with Central Precocious Puberty Through Specific DNA Methylation Analysis

Canton Ana , Steunou Virginie , Brito Vinicius , Laure Sobrier Marie , Montenegro Luciana , Bessa Danielle , Mendonca Berenice B , Netchine Irène , Latronico Ana Claudia

Background: Loss of imprinting has been implicated in the pathogenesis of several human diseases. Monogenic causes of central precocious puberty (CPP) were identified in families with loss-of-function mutations in two paternally expressed imprinted genes: Makorin zinc finger 3 (MKRN3) and Delta-like 1 homolog (DLK1). The role of imprinting defects in CPP has not been described so far.Objective: To inves...

hrp0084p2-535 | Puberty | ESPE2015

GH Deficiency with Advanced Bone Age: GHRH Receptor Mutation Detected by Exome Sequencing Associated to Non-Classical Congenital Adrenal Hyperplasia (CAH)

Correa Fernanda de Azevedo , Franca Marcela M , Fang Qing , Ma Qianyi , Bachega Tania A , Mendonca Berenice B , LJorge Alexander , Carvalho Luciani R , Camper Sally A , Arnhold Ivo J P

Background: Isolated Growth Hormone Deficiency (IGHD) is usually associated with a delayed bone age. A genetic cause for IGHD is more frequently found in patients with familial cases and/or consanguineous parents.Objective and hypotheses: To diagnose the genetic cause of IGHD and clarify the unusual clinical presentation of advanced bone age in one patient born to consanguineous parents.Method: Sanger sequencing of GH1, <e...

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...

hrp0084p1-62 | DSD | ESPE2015

Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

Cools Martine , Wolffenbuttel Katja P , Kaprova Jana , Mendonca Berenice B , Drop Sten LS , Hersmus Remko , Stoop Hans , Gillis Ad JM , Costa Elaine MF , Domenice Soraiah , Wunsch Lutsz , Quigley Charmian , Arlt Wiebke , T'Sjoen Guy , Looijenga Leendert HJ

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

hrp0084p2-523 | Puberty | ESPE2015

Copy Number Variants in Patients with Congenital Hypopituitarism Associated with Complex Phenotypes

Correa Fernanda A , Franca Marcela M , Canton Ana P M , Otto Aline P , Costalonga Everlayny F , Brito Vinicius N , Carvalho Luciani R , Costa Silvia , Arnhold Ivo J P , Jorge Alexander A L , Rosenberg Carla , Mendonca Berenice B

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

hrp0086p1-p356 | Gonads &amp; DSD P1 | ESPE2016

A New International Registry Highlights the Differences in Practice for Reaching a Diagnosis of CAH – On Behalf of the I-CAH/I-DSD Registry User Group

Kourime Mariam , Bryce Jillian , Jiang Jipu , Karunasena Nayananjani , Guran Tulay , Hannema Sabine Elisabeth , Cools Martine , Van Der Grinten Hedi L Claahsen , Krone Nils , Darendeliler Feyza , Balsamo Antonio , Bonfig Walter , Nordenstrom Anna , Hiort Olaf , Dagmar Lallemand , Ross Richard , Ahmed Syed Faisal , Koehler Birgit , Acerini Carlo , Mendonca Berenice B , Bertelloni Silvano , Lisa Lidka , Bonfig Walter , Elsedfy Heba , Marginean Otilia

Background: Following the 2010 CAH consensus, the need for genetic confirmation of diagnosis remains uncertain and variation in practice is unclear.Methods: This variation was assessed by using the International CAH(I-CAH) Registry which was developed using the same platform as the I-DSD Registry.Results: After the development of the I-CAH Registry in October 2014, the rate of addition of CAH cases increased from 2/month to 14/mont...

hrp0086fc7.6 | Gonads &amp; 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...

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...