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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

Free Communications

Gonads & DSD

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...

hrp0086fc7.2 | Gonads & DSD | ESPE2016

Serum Irisin Concentrations in Lean Adolescents with Polycystic Ovary Syndrome

Bacopoulou Flora , Athanasopoulos Nikos , Mantzou Aimilia , Efthymiou Vassiliki , Lambrou George

Background: The myokine irisin, is associated with the metabolic and hormonal dysregulation of polycystic ovary syndrome (PCOS) in adult women. Recent studies have shown that circulating irisin levels increase in adult women with PCOS.Objective and hypotheses: The purpose of this study was to determine serum concentrations of irisin in lean adolescents with PCOS and healthy controls and to evaluate correlations with clinical, sonographic and hormonal par...

hrp0086fc7.3 | Gonads & DSD | ESPE2016

Estrogen Insensitivity due to a Novel ESR1 Mutation in a Consanguineous Family from Algeria

Kherra Sakina , Ladjouze Asmahane , Bernard Valerie , Anane Tahar , Laraba Abdenour , Christin-Maitre Sophie

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

hrp0086fc7.4 | Gonads & DSD | ESPE2016

Disruption of Long-Range Transcriptional Regulation of Genes Known to be Associated with DSD

Yatsenko Svetlana , Madan-Khetarpal Suneeta , Schneck Francis , Hughan Kara , Rajkovic Aleksander , Witchel Selma

Background: Early genetic diagnosis in patients with disorders of sex development (DSDs) can facilitate clinical management, predict recurrence risks, and augment general knowledge. Novel techniques such as SNP microarrays, GWAS, and exome sequencing have identified mutations in the coding regions of genes linked to DSDs. In some instances, variants in non-coding regions have been associated with 46,XY gonadal dysgenesis, e.g. deletions upstream of SOX9 (PLoS One 2011...

hrp0086fc7.5 | Gonads & DSD | ESPE2016

Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development

Kim Ja Hye , Kang Eungu , Kim Gu-Hwan , Jang Ja-Hyun , Cho Eun-Hae , Lee Beom Hee , Yoo Han-Wook , Choi Jin-Ho

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

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...