ESPE Abstracts

ESPE Abstracts

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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sept 2022 - 17 Sept 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 1

Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

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Pituitary, Neuroendocrinology and Puberty
Table of contents
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Thyroid

hrp0095p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Analysis of the GHR gene poly¬morphism in a non-disgenetic 46,XY DSD cohort without molecular diagnosis.

hrp0095p1-170 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Increased Circulating Levels of Myo-inositol in Girls with Polycystic Ovary Syndrome

hrp0095p1-171 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Predictors of surgical outcomes in boys with hypospadias

hrp0095p1-172 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Diabetes type 1 can induce testicular atrophy with Leydig cell hyperplasia and germ cell depletion and therefore prevents reproductive function and fertility in rats

hrp0095p1-173 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Differences due to the variant type in the inheritance pattern of BMP15 gene-related primary ovarian insufficiency: a girl with a homozygous null BMP15 gene variant

hrp0095p1-174 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A rare case of male sex reversal syndrome (46,XX) with negative SRY gene: a disorder of sexual differentiation (DSD)

hrp0095p1-175 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Primary Ovarian Failure as a Result of Homozygous Mutations in MCM10 Gene

hrp0095p1-176 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Diagnostic and management practices of girls presenting with polycystic ovary syndrome (PCOS)-like symptoms to a tertiary paediatric endocrine clinic.

hrp0095p1-177 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Empower-DSD: Development of a patient education programme for children, adolescents, and young adults with differences of sex development (DSD) and their parents

hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

hrp0095p1-179 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Loss of function of FIGNL1, a DNA damage response gene, is a novel cause of human ovarian dysgenesis

hrp0095p1-180 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

The lifetime cost of reproductive potential – who spends the most?

hrp0095p1-181 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Monoallelic variants in Myelin Regulatory Factor (MYRF) associated with 46,XY DSD – two cases and first report of inheritance through parental mosaicism

hrp0095p1-182 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Abstract unavailable

hrp0095p1-183 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Testicular sperm extraction in a patient with a new pathogenic NR5A1 (SF-1) variant : p.Phe70Serfs*5

hrp0095p1-184 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Cerebello- Oculo- Fascio-Genital Syndrome and Scrotal Agenesis with MAB21L1 Mutation; Case Report

hrp0095p1-185 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Puberty induction in boys with CHARGE syndrome and hypogonadism: experiences of patients, parents and doctors

hrp0095p1-186 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Inflammation and polycystic ovary syndrome (PCOS). Utilising proteomic analysis to unravel the link between inflammatory proteins and PCOS in adolescents

hrp0095p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Evaluation of The Relationship Between the Immune and Endocrine System in Children Diagnosed with Polycystic Ovary Syndrome

hrp0095p1-368 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Gender dimorphism in transgender youth – hormonal therapy and the balance between muscle, adipose tissue and cardiometabolic alterations

hrp0095p1-369 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Prevalence of Overweight and Obesity in a Transgender Youth Cohort

hrp0095p1-370 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

An Investigation Of Androgen-responsive Non-coding RNAs In Boys With Atypical Genitalia Without Genetic Variants in the Androgen Receptor (AR)

hrp0095p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort

hrp0095p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Premature ovarian failure in a tall adolescent

hrp0095p1-373 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A novel Androgen Receptor mutation causes complete androgen receptor insensitivity syndrome with gender dysphoria and unusual postnatal androgen profile.

hrp0095p1-374 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Is testosterone supplementation required after induction of puberty in Duchenne muscular dystrophy? A follow-up study

hrp0095p1-375 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Effects of long-term puberty suppression and gender-affirming hormones on body composition and metabolic profile in a preclinical mouse model and a cohort of transboys

hrp0095p1-376 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A virilizing ovarian tumour following previous rhabdomyosarcoma, masking ovarian failure

hrp0095p1-377 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Novel genomic variants, atypical phenotypes and evidence of a digenic/oligogenic contribution to Disorders/Difference of Sex Development in a large north African cohort.

hrp0095p1-378 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Assessment Of External Genitalia Change Over Time In Boys With XY Disorder Of Sex Development (DSD)

hrp0095p1-379 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

The effect of timing of puberty suppression on breast development in trans girls; a cross-sectional study

hrp0095p1-380 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Effect of Long Acting Gonadotropin Releasing Hormone Agonists on Height Outcome in Children

hrp0095p1-381 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Gynaecomastia And Its Management In Partial Androgen Insensitivity Syndrome (PAIS)

hrp0095p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Accidental transdermal estradiol exposure leading to gynecomastia and bone age acceleration in a 7 year old boy: a case presentation

hrp0095p1-383 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Study of Quality of Life among Children with Congenital Adrenal Hyperplasia at Alexandria University Children’s Hospital

hrp0095p1-384 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

17 Β-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood

hrp0095p1-385 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A Rare and Treatable Cause of Prepubertal Gynecomastia: Large Cell Calcifying Sertoli Cell Tumor

hrp0095p1-567 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Two Cases with Hypergonadotropic Hypogonadism Due to Derivative X Chromosome

hrp0095p1-568 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Endocrine care for gender incongruent children and adolescents in The Czech Republic between 2011-2020

hrp0095p1-569 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Abstract unavailable

hrp0095p1-570 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Does your daughter have a larger than usual clitoris”? Parental perception of CAH management outcome

hrp0095p1-571 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Detection of Copy Number Variations by Microarray in Disorders of Sex Development of Unexplained Molecular Etiology and Association with Clinical Findings

hrp0095p1-572 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Long-term GnRHa use and bone health in transgender adolescents: can a mouse model inform clinical practice?

hrp0095p1-573 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Long-term follow-up of DHH variant-caused 46, XY disorders of sex development with multiple complications in a Chinese Child

hrp0095p1-574 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Phenotype-genotype characteristics of SRD5A2 with variation in gender choice among affected individuals: A single centre experience

hrp0095p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A novel mutation in the BMP15 gene in a Palestinian family with primary amenorrhea revealing molecular genetics of premature ovarian insufficiency

hrp0095p1-576 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Relationship between environmental effects and metabolic characteristics of partial and central precocious puberty in girls: Understanding pathogenesis and identifying specific biomarkers

hrp0095p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Pediatric transgender care from an endocrine perspective: experience over the past decade in a tertiary Swiss center

hrp0095p1-578 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Results of Gonadotropin and Testosterone Treatments in Male Cases Diagnosed with Hypogonadotropic Hypogonadism: A Single Center Experience

hrp0095p1-579 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

MCM9 mutation in a case of premature ovarian insufficiency with vitiligo

hrp0095p1-580 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A rare case of 46,XY difference of sexual development (DSD) due to combined homozygous CYP17A1 and heterozygous CYP21A2 mutations with a unique phenotype and hormone profile

hrp0095p1-581 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A case series of granulosa cell tumors of the ovary

hrp0095p1-582 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

An International Study Of The Association Between Local Health Care Resources And Acute Adrenal Insufficiency Events In Children With Congenital Adrenal Hyperplasia

hrp0095p1-583 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Androgen receptor activity in genital skin fibroblasts in response to dihydrotestosterone, testosterone and androstenedione using the APOD assay

hrp0095p1-584 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

A Late Reperfused Ovarian Torsion Diagnosed as Acute Appendicitis in a Prepubertal Case

hrp0095p1-585 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology

Long Term Follow-up of A Boy Who Had Suprasella Tumor Recurrence 4 Years After the First Diagnosis of Extracranial GCTs

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