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

Poster Presentations

Sex Development

hrp0082p1-d3-92 | Sex Development | ESPE2014

Mutations Involving FIBULIN2 are a Novel Cause of 46,XY DSD

Bashamboo Anu , Palka Chiara , Mohn Angelika , Chiavaroli Valentina , Chiarelli Francesco , Brauner Raja , McElreavey Ken

Background: The genetic causes of disorders of sex development (DSD) are difficult to identify since these conditions are refractory to classic genetic approaches. In particular the underlying genetic mutations of most cases of 46,XY DSD is unknown.Objective and hypotheses: Using an exome sequencing approach we aimed to identify new genetic factors involved in 46,XY gonadal dysgenesis.Method: Exon enrichment was performed using Agi...

hrp0082p1-d3-93 | Sex Development | ESPE2014

Ex vivo Culture of Human Fetal Gonads: Manipulation of Meiosis Regulation Affects Testis Development

Jorgensen Anne , Nielsen John E , Perlman Signe , Lundvall Lene , Juul Anders , Rajpert-De Meyts Ewa

Background: Alterations in the timing or expression level of players involved in sex determination and differentiation can cause disorders of sex development, gonadal dysgenesis and germ cell neoplasms later in life. The mitosis–meiosis switch is one of the first manifestations of female sex differentiation and we hypothesise that a conflict between meiosis-inhibiting (male pathway) and meiosis-inducing signals (female pathway) is one of the possible mechanisms for disrup...

hrp0082p1-d3-94 | Sex Development | ESPE2014

Prenatal Exposure to Phthalates and Phenols in Relation to Anogenital Distance at Birth in Male Infants

Fisher Benjamin G , Thankamony Ajay , Ong Ken K , Dunger David B , Hughes Ieuan A , Acerini Carlo L

Introduction: Increasing incidence of male reproductive disorders may be due to fetal exposure to putative endocrine disruptor chemicals (EDCs), such as phthalates and phenols. Anogenital Distance (AGD) is a biomarker of fetal androgen action in animals, and has recently been linked to testicular dysgenesis syndrome in humans.Objective: To examine the relationship between prenatal phthalate and phenol exposure and birth AGD in male infants.<p class="...

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

hrp0082p1-d3-96 | Sex Development | ESPE2014

Isolated Hypospadias and Exposure to Endocrine Disrupting Chemicals During Pregnancy: a Multi-Institutional Controlled Study in a High Prevalence Area

Kalfa Nicolas , Philibert Pascal , Broussous Sylvie , Chouikh Taieb , Masmoudi Mohamed , Audran Francoise , Paris Francoise , Servant Nadege , Sultan Charles , Orsini Mattea , Zahhaf Amel , Daures Jean Pierre , Lehors Helene , Guys Jean Michel , Reynaud Rachel , Alessandrini Pierre , Bastiani Florence , Kurzenne Jean Yves , Wagner Kathy , Lacombe Gerard Morisson

Background: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...

hrp0082p1-d3-97 | Sex Development | ESPE2014

46, XX Ovotesticular Disorder of Sex Development: Potential Role of 13q31.1

Girardin Celine M , Dirlewanger Mirjam , Bena Frederique , Nef Serge , Rougemont Anne-Laure , Birraux Jacques , Schwitzgebel Valerie M

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...

hrp0082p1-d3-98 | Sex Development | ESPE2014

A Novel NR5A1 Mutation with Preserved Fertility

Yagi Hiroko , Takagi Masaki , Hasegawa Yukihiro , Igarashi Maki , Kon Masafumi , Fukami Maki

Background: The common phenotype caused by NR5A1 mutations of 46,XY is gonadal dysgenesis without adrenal deficiency. Preserved fertility of the affected males was described in two patients with different mutations. No functional analysis of these two mutations has been done. Here we report brothers with isolated hypospadias who carries a novel heterozygous mutation of c.910G>A, E304K in NR5A1 gene. Their asymptomatic father carries the same nucleotide ch...

hrp0082p1-d3-99 | Sex Development | ESPE2014

Development of a Next Generation Sequencing Panel for Disorders of Sex Development

Fews Graham A , Hughes Lowri , Bounford Kirsten McKay , Cole Trevor , Krone Nils , Madonald Fiona

Background: Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment or during adolescence where atypical sexual development becomes apparent. Genetic testing is key in establishing a diagnosis, allowing for personalised patient management and may significantly reduce the period of uncertainty for families ...

hrp0082p1-d3-100 | Sex Development | ESPE2014

Quality of Life in a Large Cohort of Adult Brazilian Patients with 46,XX and 46,XY Disorders of Sex Development from a Single Tertiary Centre

Amaral Rita , Inacio Marlene , Brito Vinicius , Bachega Tania , Oliveira Ari , Domenice Sorahia , Denes Francisco , Sircilli Maria Helena , Arnhold Ivo , Madureira Guiomar , Gomes Larissa , Costa Elaine , Mendonca Berenice

Background: Few studies have focused on the quality of life (QoL) of patients with disorders of sex development (DSD).Objective and hypotheses: Our aim was to evaluate QoL in DSD patients with defined diagnoses followed until adulthood in a single tertiary centre.Method: Subjects: adult DSD patients (56 patients with 46,XX DSD – 49 with female social sex and seven with male social sex as well as 88 patients with 46,XY DSD &#15...

hrp0082p1-d3-101 | Sex Development | ESPE2014

Subjective Need for Psychological Support in Parents of Children with dsd: Results from the German Clinical Evaluation Study

Bennecke Elena , Werner-Rosen Knut , Krude Heiko , Thyen Ute , Lux Anke , Kleinemeier Eva , Jurgensen Martina , Kohler Birgit , Group DSD Network Working

Introduction: The diagnosis of a disorder/difference of sexual development (dsd) is an exceptional psychosocial situation. As the diagnosis is often made in childhood, the parents are the primary communication partners. In some cases, the impossibility of immediate sex determination of the child can be a traumatic experience with a negative impact on the relationship between the parents and the child, the couple and members of the entire family. It has been recommended by the ...

hrp0082p1-d3-102 | Sex Development | ESPE2014

Four Cases of Isolated Partial Gonadal Dysgenesis Due to nr0b1 (dax1) Locus Duplication Inherited in a Large Family

Mahler Kathy Wagner , Devos Caroline , Kurzenne Jean Yves , Gastaud Frederique , Hoflack Marie , Mallet Delphine , Benailly Houda Karmous , Giuliano Fabienne , Simonin Gilbert , Sanlaville Damien , Morel Yves

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...