Previous issue | Volume 84 | ESPE2015 | Next issue

54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

Card image cap
Barcelona, Spain; 1-3 October 2015 Further information

hrp0084p1-56 | DSD | ESPE2015

Immunohistochemical Detection of Estrogen α and Androgen Receptors in Genital Tissues in Girls with Congenital Adrenal Hyperplasia

Kopylova Irina , Orlova Elizaveta , Sysoeva Veronika , Glybina Tatyana , Kareva Mariia

Background: Introital stenosis in CAH girls could occur due to poor estrogenisation of vaginal tissue. It is unknown whether CAH genital skin is equally capable of responding to estrogens and androgens, depending on form and degree of external virilisation.Objective and hypotheses: To determine the levels of oestrogen α (ERa) and androgen receptors (AR) immunoreactivity in genital tissues of girls with CAH.Method: Surgical was...

hrp0084p1-57 | DSD | ESPE2015

Attitudes of Parents of Klinefelter Boys and Flemish Paediatricians Towards Neonatal Screening and Fertility Preservation Techniques in Klinefelter Syndrome

Gies Inge , Tournaye Herman , De Schepper Jean

Background: Preserving spermatogonial stem cell (SSCs) in Klinefelter syndrome (KS) adolescents by testicular tissue banking to safeguard their fertility potential is under debate. While diagnosis of KS is frequently made in late adolescence or young adulthood, when testicular fibrosis is already present, this strategy may be an option when associated with in vitro culture and maturation of SSC.Objective and hypotheses: To evaluate the attitude ...

hrp0084p1-58 | DSD | ESPE2015

Long-term Endocrine Outcome in Men with Partial Androgen Insensitivity Syndrome

Lucas-Herald Angela K , Ahmed S Faisal , Bertelloni Silvano , Juul Anders , Bryce Jillian , Jiang Jipu , Rodie Martina , Johansen Marie L , Hiort Olaf , Holterhus Paul-Martin , Cools Martine , Desloovere An , Weintrob Naomi , Hannema Sabine E , Guran Tulay , Darendeliler Feyzad , Nordenstrom Anna , Hughes Ieuan

Background: Partial Androgen insensitivity syndrome (PAIS) is a rare condition which is associated with a variable phenotype. To date, there are limited data reporting long-term endocrine outcome for this condition.Aims: To determine the outcomes and clinical characteristics for 46, XY males with PAIS, using information from the International DSD (I-DSD) Registry and its clinical users.Methods: The I-DSD Registry and its users were...

hrp0084p1-59 | DSD | ESPE2015

Novel Genetic Associations in Children with Disorders of Sex Development and Neurodevelopment Disorders – Insights from the Deciphering Developmental Disorders study

Gazdagh Gabriella , Study DDD , Tobias Edward S , Ahmed S Faisal , McGowan Ruth

Background: Collaborative project to review the phenotypic and genotypic data from children recruited to the UK wide deciphering developmental disorders (DDD) study.Objective and hypotheses: To report the frequency and range of disorders of sex development (DSD) phenotypes observed in DDD participants who have one or more associated ‘neurodevelopmental delay’ diagnostic human phenotype ontology (HPO) term.Method: Retrospe...

hrp0084p1-60 | DSD | ESPE2015

Insight into the Human Ovarian Sex Development Networks

Bouazzi Leila , Franco Mariangela , Eid Wassim , Meyer-Boni Monika , Sproll Patrick , Maret Alexander , Lauber-Biason Anna

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...

hrp0084p1-61 | DSD | ESPE2015

Current Models of Practice & Professional Development of Clinicians in DSD Centres – Results from an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: In the optimal care of children with DSD, it is considered good practice to work within a multidisciplinary team (MDT) and engage in opportunities for professional development.Method: To explore the current models of MDT practice and the extent of professional development in specialist DSD centres, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.<p class="...

hrp0084p1-62 | DSD | ESPE2015

Prediction of Germ Cell Cancer Occurrence in Postpubertal Individuals with Androgen Insensitivity Based on Pathological Findings and Cancer Predisposition SNPs

Cools Martine , Wolffenbuttel Katja P , Kaprova Jana , Mendonca Berenice B , Drop Sten LS , Hersmus Remko , Stoop Hans , Gillis Ad JM , Costa Elaine MF , Domenice Soraiah , Wunsch Lutsz , Quigley Charmian , Arlt Wiebke , T'Sjoen Guy , Looijenga Leendert HJ

Background: Gonadectomy is generally postponed until early adulthood in complete androgen insensitivity syndrome (CAIS) and close surveillance of gonads in situ proposed in males with partial AIS (PAIS). Delaying gonadectomy further is controversial given the lack of data regarding germ cell cancer (GCC) development in adulthood and the absence of biomarkers for noninvasive GCC screening.Aims and objectives: To study the prevalence of invasive G...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

hrp0084p1-64 | DSD | ESPE2015

MAMLD1 Mutations Seem Not Sufficient to Explain a 46, XY DSD Phenotype. What else?

Camats Nuria , Fernandez-Cancio Monica , Audi Laura , Mullis Primus E , Moreno Francisca , Casado Isabel Gonzalez , Lopez-Siguero Juan Pedro , Corripio Raquel , de la Vega Jose Antonio Bermudez , Blanco Jose Antonio , Fluck Christa E

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

hrp0084p1-65 | DSD | ESPE2015

Subcutaneous Continuous Administration of Recombinant Human Luteinizing and Follicle-Stimulating Hormones is an Effective Treatment for Micropenis During the Mini-Puberty

Stoupa Athanasia , Samara-Boustani Dinane , Flechtner Isabelle , Pinto Graziella , Jourdon Isabelle , Laborde Kathleen , Chevenne Didier , Millischer-Bellaiche Anne-Elodie , Polak Michel , Beltrand Jacques

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...