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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

Rapid Free Communications

Gonads & DSD

hrp0086rfc7.1 | Gonads & DSD | ESPE2016

Tissue Engineered Collagen Based Tubular Scaffolds for Urethral Regeneration. A Novel Technology for the Surgical Treatment of VSD (Variation of Sex Development) Patients with Severe Hypospadias

Pinnagoda Kalitha , Larsson Hans M , Vythilingam Ganesh , Vardar Elif , Engelhardt Eva-Maria , Thambidorai Rajendrarao C , Hubbell Jeffrey A , Frey Peter

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...

hrp0086rfc7.2 | Gonads & DSD | ESPE2016

Reference Values for External Genitalia Size and Steroid Hormone Levels in Female Neonates

Castets Sarah , Plotton Ingrid , Nguyen Kim-An , Plaisant Franck , Prudon Malika , Laborie Sophie , Souillot Marie , Roche Sylvain , Ecochard Rene , Claris Olivier , Morel Yves , Nicolino Marc , Gay Claire-Lise

Background: Prenatal androgen exposure can lead to variable virilization of external female genitalia. The lack of a consensus definition of clitoromegaly and the limited data available on normal steroid levels in female neonates makes its diagnosis difficult.Objective and hypotheses: The aims of this study were (i) to define reference sizes for external female genitalia in term and preterm neonates as a function of gestational age and birth weight; and ...

hrp0086rfc7.3 | Gonads & DSD | ESPE2016

Harmonisation of Serum Dihydrotestosterone Analysis: Establishment of an External Quality Assurance Program

Wudy Stefan , Hartmann Michaela , Jolly Lisa , Shun Ho Chung , Kam Richard , Joseph John , Boyder Conchita , Greaves Ronda

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...

hrp0086rfc7.4 | Gonads & DSD | ESPE2016

A Mutation in WT1 (Wilms’ Tumor Suppressor 1) Associated with 46,XX TDSD

Eozenou Caroline , Fusee Leila , Mazen Ines , Bignon-Topalovic Joelle , McElreavey Ken , Bashamboo Anu

Background: 46,XX DSD (Disorder of Sex Development) includes individuals with ovotestes (ovotesticular DSD (OTDSD)) or testes (testicular DSD (TDSD)). Most individuals with 46,XX TDSD carry the SRY gene. Other known causes of TDSD/OTDSD include chromosomal rearrangements involving SOX9 or SOX3 and mutations of WNT4 and a WNT regulator, R-SPONDIN 1. However, our understanding of the molecular causes of TDSD and OTDSD remain incomplete.<p ...

hrp0086rfc7.5 | Gonads &amp; DSD | ESPE2016

Fertility Preservation in an Adolescent Boy: Inducing Puberty and Spermatogenesis Prior to Bone Marrow Transplantation

Ho Cindy , Zacharin Margaret

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

hrp0086rfc7.6 | Gonads &amp; DSD | ESPE2016

The Hopeful Beginnings of Fertility Preservation in Children

Ho Cindy , Bourne Harold , Gook Debra , Clarke Gary , Kemertzis Matthew , Stern Kate , Agresta Franca , Zacharin Margaret , Heloury Yves , Clark Hannah , Orme Lisa , Barak Shlomi , Jayasinghe Yasmin

Background: Fertility Preservation (FP) in children and adolescents poses unique challenges as efficacy is unproven.Objective and hypotheses: To describe characteristics and evidence for potential fertility in ovarian and testicular tissue cryopreservation specimens (OTCP and TTCP respectively) taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy.Method: Retrospective review of gonadal biopsies a...

hrp0086rfc7.7 | Gonads &amp; DSD | ESPE2016

Clinical Decision-Making in Disorders of Sex Development (DSD): Physician Recommendations Pre- and Post-Consensus Statement

Sandberg David E. , Kogan Barry , Gardner Melissa

Background: Despite advances in genetic diagnosis and surgical technique, and guidance from the Consensus Statement on Intersex Disorders, aspects of clinical management in disorders/differences of sex development (DSD) remain unsettled. Actively debated decision points include gender of rearing in specific syndromes, genital surgery prior to the patient developing the capacity to provide assent, and uncertainty over how and when to best educate young patients about diagnostic...

hrp0086rfc7.8 | Gonads &amp; DSD | ESPE2016

Premature Adrenarche in Girls at Pubertal Onset is Associated with High Androgens, but Lower AMH Concentrations

Merino Paulina M , Pereira Ana , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with increase androgen levels and PCOS have arisen.Objective: To determine whether PA in children at pubertal onset (TII) determines a different timing of pubertal events and a different pattern of ovarian and adrenal hormones.Methods: A total of 583 girls from the longitudinal cohort (Growth and Obesity Cohort Study, born 2002) wer...