3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY
Programme
The programme of the 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. International Workshop theme: 'A life-course perspective'
Download the programme of the 3rd International Workshop on Klinefelter Sydrome, Trisomy X and XYY ›
DAY 1 - September 12
Venue: Academy Building (Telders Auditorium), Rapenburg 73, Leiden
Registration and opening
Genetics and X chromosome dynamics
The genetic architecture of sex chromosome aneuploidies – new developments.
Sex Chromosome Dosage Effects: From the Genome to the Brain
Sex chromosome aneuploidies give rise to pervasive changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues.
The proper interplay between the expression of Spo11 splice isoforms and the structure of the pseudoautosomal region leads XY recombination.
The impact of X-polysomy during early embryogenesis in Klinefelter Syndrome and High-grade X chromosome aneuploidy.
Endocrinology and fertility
Testis function, hypogonadism and bone metabolism
Klinefelter in transition: auxological, endocrine and metabolic changes during puberty
Aging in Klinefelter patients.
Focal spermatogenesis in men with Klinefelter syndrome requires loss of XIST expression and of the additional X-chromosome in Sertoli cells.
Randomized-controlled trial of testosterone in 70 infants with 47,XXY.
Fertility
Sex Chromosome Aneuploidies and Fertility: 47 XXY, 47XYY, 47XXX, and 45X/47XXX.
Social event
DAY 2 - September 13
Venue: Academy Building (Telders Auditorium), Rapenburg 73, Leiden
Opening
Living with an extra X or Y
Developmental impact in childhood and adolescence
Neurocognitive and behavioral development in young children (1-7 years) with Sex Chromosome Trisomy: the TRIXY Early Childhood Study
The eXtraordinarY Babies Study: A Prospective Natural History Study of Health and Neurodevelopment in Children with a Prenatal Diagnosis of Sex Chromosome Trisomy
System-Based Diagnoses in Youth with XXY, XXY, and XXX
Oral narrative skills in preschool children with sex chromosome trisomies
Neuropsychiatric difficulties in Klinefelter Syndrome and supporting tool checklist
Impact of X and Y on life course
Morbidity of 47,XXY and 47,XYY syndromes - similarities and differences
Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance
The onset and progression of testicular dysfunction in Klinefelter Syndrome
Psychological Effects of Testosterone in Tanner 2-3 Males with XXY: Results of a randomized, placebo-controlled trial
Future perspectives
Klinefelter Syndrome- a novel view into testicular function
Social event
DAY 3 - September 14
Venue: Academy Building (Hortus Botanicus), Rapenburg 73, Leiden
Treatment & guidelines
Presentation of the 2021 EAA guideline
Areas that need more focus in Klinefelter syndrome
Arguments for new international comprehensive guidelines
Roadmap to new guidelines with proposal for subcommittees
Social event
