hrp0084fc6.1 | Gonads & DSD | ESPE2015

Correlation of AR Expression and AR Transcriptional Activity in Cultured Human Genital Fibroblasts

Hornig Nadine , Rodens Pascal , Ukat Martin , Demiri Jeta , Eckstein Anne Katrin , van der Horst Christof , Seif Christoph , Ammerpohl Ole , Holterhus Paul-Martin

Background: The androgen receptor (AR) is essential for the development of primary and secondary male characteristics and is activated by its ligand dihydrotestosterone (DHT). Reduced AR activity can cause undervirilization and infertility. We recently developed an assay to test AR function as a ligand-dependent transcriptional activator in human genital skin fibroblasts (GF). So far it is unclear, if AR expression levels correlate with AR function in the male external genital...

hrp0084p3-793 | DSD | ESPE2015

A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report

longjiang Zhang , xionghui Xian , shufeng Tian , xia Liu , zhe Su

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

hrp0097p2-315 | Late Breaking | ESPE2023

A case report of a novel mutation in AR gene in two sisters with 46-XY Karyotype

Rostami Parastoo , Mohsenipour Reihaneh

Introduction: Phenotype gender is the outcome of a long and coordinated set of fetal events that are controlled by genetic factors, hormonal factors and environmental factor. In the case of the 46XY fetus, SRY gene on chromosome Y determines the gender and cause bipotential gonad change to testes. And other factors such as sertolli cell by secreting anti-Mullerian hormone which leads to regression of the structures rooted in the paramesonephric ducts (tubes, w...

hrp0086p2-p392 | Gonads & DSD P2 | ESPE2016

Identification of an AR Mutation in Klinefelter’s Syndrome during Evaluation for Penoscrotal Hypospadias

Acar Sezer , Tuhan Hale , Bora Elcin , Demir Korcan , Onay Huseyin , Ercal Derya , Bober Ece , Abaci Ayhan

Background: Klinefelter’s syndrome (KS) is the most prevalent chromosomal abnormality and clinically characterized by oligo-azoospermia, hypergonadotropic hypogonadism, gynecomastia and infertility in adults. Genital malformations in KS have rarely been reported.Objective and hypotheses: To investigate the etiology of penoscrotal hypospadias in a 14-month-old boy.Method: The patient was born from a healthy 23-year-old mother a...

hrp0089lb-p7 | Late Breaking P1 | ESPE2018

Mutational Analysis of SRD5A2 and AR Genes in Indian Children with 46 XY Disorders of Sex Development

Kumar Anil , Faruq Mohd , Werner Ralf , Sharma Rajni , Jain Vandana

Aim: To study the mutation spectrum in SRD5A2 and AR genes among Indian children with 46 XY disorders of sex development (DSD).Methods: This work is part of an ongoing study at Department of Pediatrics, AIIMS, Delhi, approved by the ethics committee of the Institute. Children with 46 XY DSD in whom endocrine investigations were suggestive of either 5α reductase deficiency or androgen insensitivity syndrome were enrolled for mutatio...

hrp0084p2-320 | DSD | ESPE2015

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

Akcan Nese , Toksoy Guven , Uyguner Oya , Saka Nurcin , Altunoglu Umut , Abali Zehra Yavas , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Main diagnosis of 46,XY disorders of sex development (DSD) with normal testosterone secretion Androgen insensivity sydrome (AIS) or 5α-reductase deficiency (5α-RD). In prepubertal period, AIS and 5α-RD present indistinguishable phenotypes that necessitate the molecular analyses for the definitive diagnosis.Objective and hypotheses: Clinical, hormonal and genetic investigation of 46,XY DSD patients who considered as PAIS or 5&#9...

hrp0086lbp10 | (1) | ESPE2016

Molecular Analysis of AR, SRD5A2, NR5A1 and HSD17B3 Genes in a Brazilian 46,XY DSD Cohort

Petroli Reginaldo Jose , Lessa Victor Jose Correia , Vieira Larissa Clara , de Calais Flavia Leme , Fabbri Helena Campos , Henriques Taciane Barbosa , dos Santos Cruz Piveta Cristiane , do Nascimento Diogo Lucas Lima , de Mello Maricilda Palandi , Monlleo Isabella Lopes

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

hrp0095p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

An Investigation Of Androgen-responsive Non-coding RNAs In Boys With Atypical Genitalia Without Genetic Variants in the Androgen Receptor (AR)

Alimussina Malika , McMillan Martin , Chudleigh Sandra , D McNeilly Jane , A Diver Louise , McGowan Ruth , S Tobias Edward , Faisal Ahmed S

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

hrp0082p3-d1-961 | Sex Development | ESPE2014

Three Siblings Extremely Androgen Insensitivity Syndrome Due to an AR Mutation with Differing Phenotypes

Yuksel Bilgin , Ucakturk Eda Mengen , Gurbuz Fatih , Topaloglu Ali Kemal

Background: Androgen insensitivity syndrome (AIS) is the most common cause of 46,XY sexual differentiation disorders. Clinical presentation is variable among cases with a range from a complete female to male external genitalia. There is a weak correlation between genotype and phenotype.Aım: Our aim is to report clinical and molecular characteristics of siblings with AIS.Patients and methods: Two siblings newborns with ambiguou...

hrp0097fc10.5 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

MCM4 deficiency causing Natural Killer and Glucocorticoid Deficiency with DNA repair defect (AR-NKGCD) - a large cases series from the Irish Traveller population

Fedorczak Anna , Reynolds Claire , Somers Eric , Ann Lynch Sally , Leahy Ronan , M O’Connell Susan

A new condition, unique to Irish Travellers, was first described clinically as autosomal recessive natural killer and glucocorticoid deficiency (AR-NKGCD) ORPHA:75391 in 2008 and was attributed to recessive founder variant in MCM4/PRKDC gene in 2012. Irish Travellers are an indigenous endogamous population numbering ~40,000 in the Republic of Ireland. AR-NKGCD is characterised by short stature, glucocorticoid and natural killer cell deficiency and is a disorder of DNA repair. ...