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58th Annual ESPE

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

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The theme of this year’s meeting is Variety and Variation in Paediatric Endocrinology. Join us in Vienna to explore the diversity we encounter in our discipline and the care that we have to exercise when using the term “normality”. Whilst gaining an update on the latest treatments, clinical best practice and cutting edge research in the field of paediatric endocrinology.

Poster Category 1

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2)

hrp0092p1-409 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Long-Term Outcome in Young Women Treated for Central Precocious Puberty

Improda Nicola , Alfano Sara , Anselmi Federica , Gaeta Valeria , Bufalo Lorenzo , Santamaria Fabiana , Di Mase Raffaella , Salerno Mariacarolina

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and Methods: A cohort of 63 ...

hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...

hrp0092p1-411 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Gender Decision in Disorders of Sex Development (DSD) Patients: 20 Years' Experience

Gürbüz Fatih , Alkan Murat , Celik Gonca , Bisgin Atil , Cekin Necmi , Kemal Topaloglu Ali , Zorludemir Unal , Avci Ayse , Yuksel Bilgin

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

hrp0092p1-412 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

WES Analysis of a Cohort of 94 Patients Presenting with 46,XY and 46,XX DSD

Sproll Patrick , Stevenson Brian , Nef Serge , Biason-Lauber Anna

Background: Disorders/Differences of Sex Development (DSD) is diagnosed in approximately one out of 4'500 newborns. Children born with DSD present with a very diverse phenotype and they and their families face considerable challenges, potentially including surgical intervention and gender assignment, as well as associated complications such as infertility and predisposition to gonadal tumors. Due to the lack of knowledge concerning the complete gene and pr...

hrp0092p1-413 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Assessment of the Function of Lower Urinary Tract Following Feminizing Genitoplasty in Females with Congenital Adrenal Hyperplasia

Elsayed Shaymaa , Wafa Ehsan , Badawy Haytham , Yousry Yousra

Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only "cosmetically accepted" genitalia but also normally functioning. The complications of feminizing geni...

hrp0092p1-414 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Gonadal Insufficiency and Affecting Factors in Patients with Bone MarrowTransplantation(BMT) for Non-malignantIndications in Childhood or Adolescence

Er Eren , Aksoylar Serap , Mehdiyeva Humay , Özek Gülcihan , Özen Samim , Göksen Damla , Darcan Sükran

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

hrp0092p1-415 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Clinical and Molecular Characteristics of Russian Patients with 46,XY DSD due to NR5A1 Gene Mutations.

Kalinchenko Natalia , Petrov Vasiliy , Vasiliev Evgeniy , Tiulpakov Anatoly

Background: Steroidogenic factor 1 (encoded by the NR5A1gene) is a transcriptional regulator of genes involved in gonadal development and steroidogenesis. Mutations in NR5A1 have been identified among the most frequently genetic causes of disorders of sex development (DSD).Objective: To report the phenotype of 31 patients associated with 17 novel and 9 previously described NR5A1 sequence varian...

hrp0092p1-416 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Creating a Clinical Evaluation System for Simple and Comprehensive Scoring of Differences/Disorders of Sexual Development

Nagamatsu Fusa , Kawai Masanobu , Sato Hiroyuki , Shoji Yasuko , Matsumoto Fumi , Ida Shinobu , Hasegawa Yukihiro

Background: The Prader and Quigley classifications (P/Q-C), used widely to evaluate external/internal genitalia in differences/disorders of sexual development (DSD) patients, are sometimes unsuitable for determining the stage/grade because they were originally designed to assess 46,XX 21-hydroxylase deficiency (21OHD) and 46,XY androgen receptor defects (ARD), respectively. The external masculinization score (EMS) is also used to assess masculinization of the ...

hrp0092p1-417 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Hypospadias: Clinical Approach, Surgical Technique and Outcome. Twenty Years' Experience of a Single Centre.

Lucaccioni Laura , Poluzzi Francesca , Durante Viviana , Predieri Barbara , Iughetti Lorenzo , Luca Ceccarelli Pier

Background: Hypospadias is one of the most common congenital abnormalities in male. Nowadays, hypospadias surgical repair has become highly demanding and deeply investigated with more than 300 corrective procedures. Its success is assessed by the "reoperation rate" that occurs short after the surgery within a brief follow-up (6-12 months). However, short-term outcomes may not reflect the long-term ones, as hypospadias repair may influence adolescence a...

hrp0092p1-418 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Epidemiology of Diagnoses of Sex Development Disorders Based on the Registry of Rare Diseases, in a Large Area of North-Eastern Italy

Guazzarotti Laura , Censi Simona , Gutierrez Joaquin , Azzolini Sara

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

hrp0092p1-419 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Premature Ovarian Insufficiency in Women after Treatment for Childhoodcancer is a Risk Factor for Metabolic Syndrome

Netterlid Axel , Mörse Helena , Giwercman Aleksander , Henic Emir , Erfurth Eva-Marie , Elfving Maria

Background: Childhood cancer survivors (CSS) are at risk for several late effects, among them increased risk of metabolic syndrome (MetS). We wanted to study if female hypogonadism was a risk factor for MetS.Method: This study included 167 female CCS, mean age 34.3 (19.3-57.8) years in the South region of Sweden and 164 matched controls, mean age 35.0 (19.3–58.0). The female CCS were diagnosed at mean age 8.9 (0.1-1...