Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

Free Communications

Gonads & DSD

hrp0082fc6.1 | Gonads & DSD | ESPE2014

Search for Genetic Defects in the Transcription Factor Genes FOXL2, FOXE1, BMP15, NOBOX, and GDF9 in Children, Adolescents and Young Adults With Premature Ovarian Insufficiency POI

Settas Nikolaos , Anapliotou Margarita , Deligeoroglou Euthimios , Kanavakis Emmanuel , Fryssira Eleni , Kanaka-Gantenbein Christina , Michala Lina , Dacou-Voutetakis Catherine , Creatsas George , Chrousos George P , Voutetakis Antonis

Background: Molecular defects are rarely detected in Premature ovarian insufficiency (POI) patients.Objective and Hypotheses: We hypothesized that the frequency of causative molecular defects could be higher in cases with early onset of POI. Moreover, the analysis of multiple genes in the same POI group could disclose co-existence of more than one molecular aberration.Method: In 25 subjects, aged 17.1±7 years at POI onset, bid...

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

hrp0082fc6.3 | Gonads & DSD | ESPE2014

LRH1 Rescues SF1 Deficiency for Steroidogenesis in vitro but Cannot Explain the Broad Phenotype of SF1 Deficiency in men

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Andaluz Pilar , Mullis Primus E , Carrascosa Antonio , Fluck Christa E

Introduction: Steroidogenic factor1 (SF1/NR5A1) regulates adrenal and sex development and function. SF1 mutations manifest with a broad phenotype; generally in 46,XY individuals with disorders of sex development (DSD) and in women with ovarian insufficiency. So far, no genotype–phenotype correlation has been found. We hypothesized that the broad phenotype of SF1 mutations may be due to a second hit in a gene with similar function. Liver receptor homolog-1 (LRH1/<...

hrp0082fc6.4 | Gonads &amp; DSD | ESPE2014

Familial 46,XY Complete Female External Sex Development and Primary Amenorrhea Along with Hidden Gonad Tumors, Secondary to a Novel p.met64val SRY Gene Mutation

Vaiani Elisa , Malosetti Carmen , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Berensztain Esperanza , Col Florencia Da , Bailez Marcela , Sala Josefina , Galluzzo Laura , Maceiras Mercedes , Lazzati Juan Manuel , Rivarola Marco , Belgorosky Alicia

Background: The SRY protein is a transcription factor that contains a high mobility group (HMG) homeobox domain which possesses sequence-specific DNA binding activity and regulates other genes involved in male sex determination pathway. The majority of the identified mutations occurred within the HMG-box motif. There are few reports of pedigrees with familial transmission.Objective and Hypotheses: To describe a paternally transmitted novel SRY mutation w...

hrp0082fc6.5 | Gonads &amp; DSD | ESPE2014

Serum Levels of AMH Reflect Ovarian Morphology by MRI in 109 Healthy Peripubertal Girls

Hagen Casper P , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Fallentin Eva , Anderson Richard A , Main Katharina M , Juul Anders

Background: In adult women, serum levels of AMH reflect both the number of small growing follicles and remaining primordial follicles. AMH levels range 15 fold between healthy girls. Interpretation of AMH is contentious due to minor intra-individual changes around time of pubertal onset despite continuous loss of primordial follicles.Objective and Hypotheses: To describe ovarian morphology (volume, follicles) in healthy girls and adolescents in relation ...

hrp0082fc6.6 | Gonads &amp; DSD | ESPE2014

Effects of Exposure to the Endocrine disruptor di(n-butyl) Phthalate on Testicular Dysgenesis Fetal Germ Cell Development in the Rat and in Human Fetal Testis

Mitchell Rod , van den Driesche Sander , Hrabalkova Lenka , Anderson Richard , McKinnell Chris , MacPherson Sheila , Calarrao Ana , Sharpe Richard

Background: Phthalate exposure results in endocrine disruption by inhibiting steroidogenesis, inducing focal dysgenesis and disrupting germ cell development in the rat fetal testis. Whilst phthalate exposure does not reduce testosterone production by the human fetal testis, its effects on germ cells and induction of dysgenetic areas in the developing human testis are less well described.Objective and Hypotheses: To determine the effects of phthalate expo...