ESPE Abstracts

ESPE Abstracts

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58th Annual ESPE (ESPE 2019)

Vienna, Austria
19 Sept 2019 - 21 Sept 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 2

Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

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Pituitary, Neuroendocrinology and Puberty
Table of contents
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Thyroid

hrp0092p2-244 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

The Evolving Role of Whole Exome Sequencing in the Diagnosis of Disorders of Sex Development (DSD)

hrp0092p2-245 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Etiological Structure Disorders of Sex Development 46,XY By One Center

hrp0092p2-246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Comparison of Growth Status, Level of Blood Glucose and Lipid Metabolism in SGA and AGA Girls with Central Precocious Puberty

hrp0092p2-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Does the Anogenital Distance Predict Outcome of Hypospadias Repair?

hrp0092p2-248 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

GnRH Analogues Use in Post-Pubertal Adolescents with Gender Dysphoria Causes a Reduction in Bone Density Values

hrp0092p2-249 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

11-Oxygenated Androgens May be Related to the Virilization of Female External Genitalia Due to the Maternal Androgen-Producing Adrenal Tumor

hrp0092p2-250 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

High Prevalence GnRH Receptor Mutations in Russian Patients with Idiopathic Hypogonadotropic Hypogonadism

hrp0092p2-251 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

3β-HSD2 Deficiency Due to Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and a Frameshift Deletion (p.Lys273ArgFs*7) in an Under-Virilized Infant Male with Salt Wasting

hrp0092p2-252 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Clinical Evaluation of Newly Developed Scoring System for DSD (DSD-SS): Association of DSD-SS With Assigned Gender in 45,X/46,XY Mosaicism

hrp0092p2-253 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Complexities of Diagnosis in 17-Beta-Hydroxysteroid Dehydrogenase Deficiency and Implementation of Next Generation Sequencing in Guiding Management Decisions – Case Series of Six Patients

hrp0092p2-254 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Paediatric Health Assistance to Transsexual Minor in the Multidisciplinary Care Unit of the Basque Country (Spain)

hrp0092p2-255 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

A Rare Cause of 46, XX ovotesticular DSD: Tetragametic Gonadal Chimerism

hrp0092p2-256 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

A Clinical and Cytogenetic Study of Patients with Disorders of Sex Development (DSDs) Associated with Congenital Anomalies or Recognizable Syndromes

hrp0092p2-257 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Physical Changes, Laboratory Parameters and Bone Mineral Density During Testosterone Treatment in Adolescents with Gender Dysphoria

hrp0092p2-258 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Study of Autistic Features Among Children and Adolescents with Congenital Adrenal Hyperplasia

hrp0092p2-259 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Differences of Sex Development with Chromosomal Mosaicism: Histological Characterization and Immunohistochemistry Markers in Gonads During Childhood

hrp0092p2-260 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Heterozygous CYP11A1 Mutation Associated with 46XY Disorder of Sexual Differentiation and Mild Adrenal Insufficiency

hrp0092p2-261 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Abstract unavailable

hrp0092p2-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Etiologic Classification of 46, XX Disorders of Sexual Differentiation According to Chicago Consensus: Single Center Results

hrp0092p2-263 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Novel Genotype in Two Siblings with 5-Alpha-Reductase 2 Deficiency:Different Clinical Course Due to the Time of Diagnosis

hrp0092p2-264 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Ethical and Familial Dilemmas of Genitoplasty Encountered in Congenital Adrenal Hyperplasia

hrp0092p2-265 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Hormonal Assessment of Malformation Syndromes Associated with Disorders of Sex Development: Case Series of 9 Patients

hrp0092p2-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Family Perrault Syndrome in Two Tunisian Sisters

hrp0092p2-267 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

An Intriguing Co-Occurrence of MURCS and VACTERL Association: A Case Report and Review of the Literature

hrp0092p2-268 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

The Effect of Vitamin D Supplementation on Androgen Levels of Adolescent Girls with Hyperandrogenism

hrp0092p2-269 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Pseudo-Precocious Puberty in Children Triggered by Incidental Transdermal Contamination with Topical Sex Steroids Through Parents

hrp0092p2-270 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Follow-up of Individuals with Gender Identity Disorders: A Long and Challenging Process

hrp0092p2-271 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Follow-Up of Two Similar Patients with Steroidogenic Factor-1 (SF-1/ NR5A1) Variants, in Two Different Eras

hrp0092p2-272 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Genetic Testing of DSD Patients in Ukraine

hrp0092p2-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

Spectrum of Genital Abnormalities in Robinow Syndrome: Case Series

hrp0092p2-274 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

MAMLD 1 Gene Mutation and 46 XY Sex Development Disorder: A Case Report

hrp0092p2-275 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology

46,XY Complete Gonadal Dysgenesis in a Familial Case with a Rare Mutation in the Desert Hedgehog (DHH) Gene

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