Endocrine Abstracts

Contents

• Invited Speaker Abstracts
• • Speaker Abstracts
  • • Gonad development

      ea0118001
    • Disease gene prioritization using single-cell data for gene discovery in differences of sex development

      ea0118002
    • Making sense of sex in neuroscience

      ea0118003
    • Advances in male fertility preservation

      ea0118004
    • Importance of androgens in the development and function of the human foetal testis

      ea0118005
    • Ethics of fertility preservation in young people

      ea0118006
    • Assessment of the quality of care in DSD

      ea0118007
    • Assessment of the quality of care in CAH

      ea0118008
    • Lessons learnt from DSD care in India

      ea0118009
    • The influence of biology on athletic performance

      ea0118010
    • Managing biological differences in the sporting world

      ea0118011
    • Gaps in current hormone replacement therapies

      ea0118012
    • Mimicking the adrenal gland: novel developments

      ea0118013
    • Mimicking the testis: generating stem-cell derived organoids

      ea0118014
    • Environment of hypospadias and its link to surgical outcome

      ea0118015
    • Long term management after female genitoplasty

      ea0118016
    • Standardized assessment of surgical outcomes

      ea0118017
• Oral Communication Abstracts
• • Session 1
  • • Dysregulated free fatty acid metabolism in men with Klinefelter Syndrome

      ea0118oc1.1
    • Phenotyping and hierarchical clustering in genetically unresolved DSD: identifying clinical signatures to prioritize genomic discovery

      ea0118oc1.2
    • Exploring the underlying gene expression profiles of differences of sex development phenotypes through transcriptome analysis

      ea0118oc1.3
    • Reliance on diagnostic genetics in reaching a diagnosis of androgen insensitivity syndrome (AIS) - results from the I-DSD registry

      ea0118oc1.4
    • Retinoic acid signaling is an important regulator of genotoxic stress in somatic and germ cells in individuals with various infertility phenotypes including DSD

      ea0118oc1.5
    • Long term mental, psychosocial and gender identity outcomes in adolescents and adults with differences of sex development from a tertiary care centre in India

      ea0118oc1.6
    • DMRT3: a gatekeeper of DMRT1 activity in human male sex development

      ea0118oc1.7
  • Session 2
  • • Total, autoimmune, and cardiometabolic comorbidity burden across turner syndrome karyotypes: a nationwide danish cohort study

      ea0118oc2.1
    • A new variant in the 3'-UTR of the SRD5A2 gene leads to highly efficient exonisation of an Alu element and contributes to 5[alpha]-steroid reductase type 2 deficiency

      ea0118oc2.2
    • New genes/loci underlying human sex-determination and DSD revealed by integrating single-cell multi-omics and clinical genomics datasets

      ea0118oc2.3
    • The perception of women diagnosed with congenital adrenal hyperplasia on feminising surgery in childhood

      ea0118oc2.4
    • Genetic architecture of penile volume in the general population highlights potential genetic contributors to DSD

      ea0118oc2.5
    • Analysis of the management of children with congenital adrenal hyperplasia in the United Kingdom and Ireland, using real-world data from the SDMregistries

      ea0118oc2.6
    • Investigation of psychological impact of change of surgical CAH treatment on affected families - a preview with focus on anxieties

      ea0118oc2.7
    • Gonadal management in 45,X/46,XY and 46,XY differences of sex development: a care quality evaluation

      ea0118oc2.8
• Poster Abstracts
• • Poster Abstracts
  • • Hypogonadism, adipose tissue inflammation, and adipose tissue circadian clock disruption independently promote metabolic dysfunction in Klinefelter syndrome - genomic underpinnings and testosterone treatment effects

      ea0118po1
    • Phenotypes and genotypes of mayer-rokitansky-kuster-hauser (MRKH) syndrome in Denmark

      ea0118po2
    • Patient characteristics and increased mortality in mayer-rokitansky-kuster-hauser (MRKH) syndrome: a nationwide population-based study from 1977 to 2023

      ea0118po3
    • Treatment of sex diversity in the GDR: a medico-historical analysis of clinical practice in the 1950s

      ea0118po4
    • Antiandrogens and human sex differentiation: experimental practice and pharmaceutical research in 1970s West Germany

      ea0118po5
    • Phenotype and genotype correlation of 46,XY female reared patients with primary amenorrhea; identification of novel variants in CYP17A1

      ea0118po6
    • genetic study of female with premature ovarian failure and 46 XX gonadal dysgenesis

      ea0118po7
    • Unraveling the spectrum of disorders of sex development: experience from two egyptian tertiary centers

      ea0118po8
    • The evolution and clinical predictors of molecular findings in 46XY DSD patients: experience from a single multidisciplinary centre

      ea0118po9
    • Clinical predictors of molecular results in hypogonadotrphic hypogonadism: experience from the routine use of a targeted gene panel in a multidisciplinary centre

      ea0118po10
    • A case of 46,XX, SRY-negative sex reversal - when the adolescent patient doesn't know

      ea0118po11
    • Patient information materials in DSD care: an international clinician survey with focus on androgen insensitivity syndrome

      ea0118po12
    • Investigation of self-rated concerns among parents to children with atypical genitalia and CAH

      ea0118po13
    • Gender-related behaviour in children with different DSD diagnoses using the validated questionnaire KI-GRB

      ea0118po14
    • Transdermal vs oral estrogen in girls with Turner syndrome: trends in use and stakeholder perspectives

      ea0118po15
    • Standardized multidisciplinary care program for children and adolescents with differences of sex development: experiences in the first year following implementation

      ea0118po16
    • Functional characterization of NR5A1 variants in patients with 46,XY partial gonadal dysgenesis

      ea0118po17
    • Gender identity in XY DSD individuals raised as girls: analysis of the SDMregistries

      ea0118po18
    • Sexual and urologic functioning and psychosocial outcomes in young adults with differences of sex development (DSD)

      ea0118po19
    • Evaluating adherence to recommended health screening practice guidelines in patients with 45,X/46,XY mosaicism

      ea0118po20
    • Evaluating blood serum y material mosaicism, sex assigned at birth, and virilization in patients with 45,X/46,XY

      ea0118po21
    • Incidence and clinical characteristics of gonadoblastoma in patients with 46, XY complete gonadal dysgenesis (swyer syndrome): a 22-year experience

      ea0118po22
    • Childhood gonadectomy in Ireland in differences of sex development (DSD): clinical characteristics, historical and current practices, and incidence of gonadoblastoma

      ea0118po23
    • The need for a global registry for charting the natural history of klinefelter syndrome

      ea0118po24
    • Development of a training toolkit for differences of sex development (DSD) - an initiative of the SDMregistries learning & training committee

      ea0118po25
    • International variation in testosterone replacement therapy in boys and men with klinefelter syndrome: an I-DSD study

      ea0118po26
    • Exploratory machine learning approach in routine steroid profiles of rare adrenal disorders

      ea0118po27
    • Intracrine androgen production in human genital skin fibroblasts: impact of AR and SRD5A2 mutations

      ea0118po28
    • Comparison of plasma- and salivary steroid profiles in the medical management of congenital adrenal hyperplasia based on LC-MS/MS routine data

      ea0118po29
    • Converting testosterone to estrogen: CYP19A1 transfection redirects steroidogenesis in murine leydig cells

      ea0118po30
    • Identification of novel genetic causes in differences of sex development by genome sequencing and high-throughput functional assays

      ea0118po31
    • Structural variation due to isolated DMRT1 microdeletions cause 46,XY gonadal dysgenesis without syndromic features

      ea0118po32
    • Depot-specific steroidogenic gene expression signatures in human adipose tissue-derived preadipocytes

      ea0118po33
    • Real-world multicenter outcomes following transition to modified-release hydrocortisone in congenital adrenal hyperplasia and adrenal insufficiency

      ea0118po34
    • Altered telomeres dynamics linked to genotoxic stress and cGAS-STING pathway is a common feature of human infertility

      ea0118po35
    • Clinical and genetic spectrum of XY gonadal dysgenesis from a tertiary care center in India

      ea0118po36
    • The DSD infographic toolbox. A set of communication tools for parents and children with DSD

      ea0118po37
    • [ldquo]It's all about genetics[rdquo]: genetic testing experiences and genetic counseling needs among adolescents and young adults living with differences of sex development

      ea0118po38
    • Genomic yields for differences in sex development (DSDs) across clinical settings

      ea0118po39
    • Anthropometric benchmarks of care in congenital adrenal hyperplasia (ABC-CAH): initial results from an international, multi-centre registry benchmarking exercise

      ea0118po40
    • The experience of using the PRO-CSD tools in the real world as part of routine clinical practice

      ea0118po41
    • Temporal trends in acute adrenal insufficiency related adverse events in children with 21-hydroxylase CAH (AE-CAH): an I-CAH registry study

      ea0118po42
    • Characterisation of leydig cells in individuals with genetic defects of androgen signalling

      ea0118po43
    • Exploring gonadal development in differences of sex development using spatial transcriptomics

      ea0118po44
    • Characterization of testicular developmental defects in MYRF-associated DSD

      ea0118po45
    • Hypospadias and beyond: 20 years of surgical management in differences of sex development (DSD) at a tertiary centre

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    • Advancing the genetic understanding of differences of sex development through whole genome sequencing

      ea0118po47
    • MAP3K7, a candidate gene for syndromic 46,XY DSD

      ea0118po48
    • Expanding the genetic landscape of DSD: deep intronic CYB5A variant in 46,XY gonadal dysgenesis

      ea0118po49
    • Implementation of multilevel data quality metrics in an international registry for rare endocrine conditions

      ea0118po50
    • The persisting presence of absence in female sex development: a critical interdisciplinary reflection

      ea0118po51
    • Modeling hormone-associated differences in human neurodevelopment using hiPSC-derived GnRH neurons

      ea0118po52
    • Parent involvement in child-centred sequences: a conversation analysis of paediatric transgender and DSD/intersex consultations

      ea0118po53
    • Uncertainty in transgender and DSD/intersex care for children and adolescents - experiences of healthcare professionals

      ea0118po54
    • Long-term health issues related to differences in sex development

      ea0118po55
    • Different faces of the same coin : two distinct presentations of 11[beta]-hydroxylase deficiency in 46,XX DSD

      ea0118po56
    • Reference intervals for circulating steroid hormones in healthy infants: a longitudinal LC-MS/MS study

      ea0118po57
    • Fertility preservation in differences of sex development: early institutional experience

      ea0118po58
    • Uncommon 46,XY/47,XYY/45,X mosaicism causing ambiguous genitalia and challenging management

      ea0118po59
    • Exome reanalysis revels the molecular etiology of a previously inconclusive DSD case

      ea0118po60
    • In vitro functional characterization of the novel CYP11B1 intronic variation c.1200+5G>C associated with adrenal congenital hyperplasia

      ea0118po61
    • From clinical misdiagnosis to molecular diagnosis: the power of next-generation sequencing in 46,XY DSD

      ea0118po62
    • The prevalence of nephrocalcinosis among patients with congenital adrenal hyperplasia due to 21 hydroxylase deficiency - one-centre experience. Do we need a regular screening?

      ea0118po63
    • Visceral-to-subcutaneous fat ratio and metabolic correlates in adults with classical congenital adrenal hyperplasia

      ea0118po64
    • Preserved cardiac structure in well-controlled adults with classical congenital adrenal hyperplasia: a pilot study

      ea0118po65
    • Cross-sectional assessment of health status in adults with CAH in the UK and Ireland - CaHASE2

      ea0118po66
    • Lifelong complications and care gaps in congenital adrenal hyperplasia: a scoping review

      ea0118po67
    • Prenatal androgen exposure and its relation to affective behavior and psychological traits in females with congenital adrenal hyperplasia

      ea0118po68
    • Title: Identification of two novel likely pathogenic NR5A1 variants associated with DSD and infertility in two Kuwaiti families

      ea0118po69
    • Luteinizing hormone supression and snoring as predictors of testosterone therapy-induced erythrocytosis in individuals with differences of sex development

      ea0118po70
    • Longitudinal assessment of cardiometabolic risk factors in adults with classic congenital adrenal hyperplasia: influence of hormonal control

      ea0118po71
    • When choosing comes later: patient organisation-led insights into delayed decision-making in DSD care

      ea0118po72
    • Assessment of quality of life (QOL) in paediatric patients with congenital adrenal hyperplasia (CAH) and parental perceptions in a tertiary care pediatric hospital in a low middle income Asian country

      ea0118po73
    • Aromatase deficiency masquerading as CAH in two 46, XX DSD cases

      ea0118po74
    • The clinical presentation spectrum and diagnostic yield in children with gender development disorder: a single-center experience

      ea0118po75
    • Parental decision-making regarding sex/gender registration in variants of sex development (DSD)

      ea0118po76
    • Refining the upstream SOX9 regulatory landscape through whole-genome sequencing in 46,XY complete gonadal dysgenesis

      ea0118po77
    • From X to Y and everything in between: navigating care for patients with 45,X/46,XY mosaicism

      ea0118po78
    • Minipuberty hormonal profile in PPP1R12A-related persistent mullerian duct syndrome

      ea0118po79
    • Progressive gonadal failure in prenatally diagnosed SRY-positive 46,XX testicular DSD: serial hormonal monitoring and multidisciplinary management from infancy to adolescence

      ea0118po80
    • Characterizing the phenotype of 48,XXYY sex chromosome tetrasomy through insights from six clinical cases

      ea0118po81
    • Broad spectrum of DSD with NR5A1 variants: challenges to address/confirm mechanisms of variable expressivity and incomplete penetrance

      ea0118po82
    • Why does my infant with CAH need to see a psychologist? The importance of mental health support as part of a multidisciplinary team- case examples

      ea0118po83
    • Best interests, worst assumptions? German courts and surgeries on intersex children

      ea0118po84
    • Dilemmas of adolescent patient with XY gonadal dysgenesis, trisomy 21 and combined congenital heart disease

      ea0118po85
    • Describing the metabolome of sex variability in cultured fibroblasts

      ea0118po86
    • Chromosomal differences of sex development involving monosomy X: clinical, hormonal, and cytogenetic characteristics

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    • Genetic and clinical analysis of differences of sex development in multidisciplinary clinic: 5-year single-center experience

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    • Once daily atumelnant (CRN04894) enables lowering of glucocorticoid doses with sustained androgen reduction in adults with congenital adrenal hyperplasia

      ea0118po89
    • Whole-exome sequencing in girls with anomalies of uterus and/or vagina reveals a spectrum of autosomal dominant disorders

      ea0118po90
    • I-HH: longitudinal insights into diagnosis, treatment and fertility outcomes in hypogonadotropic hypogonadism

      ea0118po91
    • Estrogen receptor (ESR1) mutation and abnormal gonadal development in a 46,XY male: a case report

      ea0118po92
    • Clinical characteristics and management of children with hypogonadotrophic hypogonadism in a single tertiary centre in Hong Kong

      ea0118po93