hrp0084p2-440 | Gonads | ESPE2015

A Novel Androgen Receptor Gene Mutation in Two Patients with a 46, XY Disorder of Sex Development

Fernandez Maria Sanz , Arnao Maria Dolores Rodriguez , Sanchez Amparo Rodriguez , de Leon Esther Gonzalez Ruiz , Cancio Monica Fernandez , Parera Laura Audi

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...

hrp0098rfc9.1 | Sex Endocrinology and Gonads | ESPE2024

Prenatal Steroid profiling in 46,XY Disorders of sexual Development (DSD) : A 10 year Retrospective Cohort study

Bouzigh Dania , Mallet Delphine , Bidault Valeska , Roucher Florence , Perrin Pauline , Raverot Veronique , Rigaud Chantal , Teoli Jordan , Plotton Ingrid

Introduction: Disorders of sexual development (DSD) encompass a complex group of conditions characterized by a discrepancy between phenotypic and chromosomal sex, sometimes associated with impaired sex steroid synthesis or hormone action. DSD can be detected prenatally; however, establishing their etiology remains challenging. Our objective is to identify steroid profiles that could guide prenatal molecular analyses for diagnosis and perinatal care.<p clas...

hrp0089p1-p219 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Evaluation of Genetic Etiology in Patients with 46,XY Disorders of Sex Development: One Center Experience

Aghayev Agharza , Toksoy Guven , Poyrazoglu Sukran , Karaman Birsen , Avci Sahin , Yildiz Melek , Abali Zehra Yavas , Altunoglu Umut , Bas Firdevs , Darendeliler Feyza , Basaran Seher , Uyguner Oya

Background: Disorders of sex development (DSD) are a heterogeneous group of disorders related to sex determination and differentiation. Although several genetic abnormalities have been discovered through genetic analyses, the underlying genetic causes of 30–40% of the 46,XY DSD cases are not yet known.Aim: To identify genetic defects in patients with 46,XY DSD.Material and methods: Seventy-six patients with 46,XY DSD were stud...

hrp0086p2-p401 | Gonads &amp; DSD P2 | ESPE2016

Aetiology of 46,XY DSD in Algeria; Putative Modifier Role of pV89L Polymorphism in the SRD5A2 Gene in Androgen Receptor Mutation-Negative Subjects

Ladjouze Asmahane , Philibert Pascal , Taleb Ourida , Kedji Lila , Maoudj Abdeljalil , Berkouk Karima , Bouhafs Nadjet , Dahmane Nabila , Melzi Souhila , Anane Tahar , Sultan Charles , Laraba Abdenour

Background: 46,XY DSD is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in molecular genetics have permitted discovery of numerous genes implicated in testicular development, the diagnosis still remains uncertain for most patients with 46,XY DSD.Objective: To identify the aetiologies of 46,XY DSD in Algerian patients.Methods: We conducted a multicentre prospective...

hrp0084p3-786 | DSD | ESPE2015

Isolated Persistent Pubertal Gynecomastia in Three Adolescent Males as the Only Phenotypic Expression of PAIS with Androgen Receptor Gene Mutations

Philibert Pascal , M'Bou Felicien , Audran Francoise , Gaspari Laura , Paris Francoise , Sultan Charles

Background: Pubertal gynecomastia is observed in up to 65% of adolescent males. It is usually idiopathic and tends to regress within 1–2 years, although sometimes pubertal gynecomastia persists.Case presentation and methods: We investigated three adolescent males with isolated persistent pubertal gynecomastia: twin brothers and an unrelated adolescent boy. The twins (17 years) had normal male external genitalia. Biological testing showed normal test...

hrp0084p3-794 | DSD | ESPE2015

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

Tuhan Hale , Anik Ahmet , Aykut Ayca , Onay Huseyin , Bober Ece , Abaci Ayhan

Background: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development. This condition is inherited in an x-linked recessive pattern and the most common causes are inactivating mutations in the androgen receptor (AR) gene.Objective and hypotheses: In this study, we report a novel AR gene mutation in an adolescent patient presenting with primary amenorrhea.Method: A 16-year-old p...

hrp0097p2-100 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Diverse Phenotypes of Three Cases of Partial Androgen Insensitivity Syndrome with Androgen Receptor Gene Variants

Aoyama Kohei , Oyachi Maki , Yoshida Aya , Yamaguchi Naoya , Suzuki Atsushi , Mizuno Haruo , Saitoh Shinji

Background: Partial Androgen Insensitivity Syndrome (PAIS) is characterized by varying degrees of masculinization defects due to impaired androgen action, resulting in a wide range of physical and psychological phenotypes.Case 1: 18-year-old with a male social gender. The patient presented with hypospadias, micropenis, and cryptorchidism during the neonatal period, and received testosterone therapy during infancy, but sh...

hrp0095p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Gynaecomastia And Its Management In Partial Androgen Insensitivity Syndrome (PAIS)

Patjamontri Supitcha , Lucas-Herald Angela , Bryce Jillian , Cools Martine , Gianni Russo , Globa Evgenia , Zelinska Natalia , Guerra-Junior Gil , Holterhus Paul-Martin , A Hughes Ieuan , Tadokoro-Cuccaro Rieko , Nordenstrom Anna , Rita Stancampiano Marianna , Weintrob Naomi , van den Akker Erica , Hiort Olaf , Hoffman Paul , Juul Anders , Nimali Seneviratne Sumudu , Faisal Ahmed S.

Introduction: In adolescents and men with PAIS, gynaecomastia has been reported in the majority but its management remains challenging.Objectives: To assess the current management of gynaecomastia as well as clinical characteristics in male PAIS.Materials and Methods: Retrospective review in the I-DSD registry of 46, XY male PAIS who were over the age of 10 years.<p class="abst...

hrp0084p3-783 | DSD | ESPE2015

Impact of Neonatal Exposure to Different Doses of Bisphenol A on the Hypothalamic-Pituitary-Testicle Axis in Male Rat

Chen Lin Qi , Zhou Wen Wen , Yang Fan , Wu Hai Ying , Jin Mei Fang

Background: Male genital abnormalities may be associated with environmental endocrine disruptors.Objective and hypotheses: To observe the hypothalamic kiss-1 gene and the testis androgen acceptor (AR) gene expression level changes and the level of serum luteinizing hormone (LH), follicle stimulating hormone (FSH); testosterone (T) and Inhibin B (INH B) in neonatal rats which exposure to different doses of bisphenol-A (BPA). In order to explore the effect...

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...