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
09.00h - 09.30h: Registration
09.30h - 10.00h: Opening by Hanna Swaab
Genetics and X chromosome dynamics
10.00h - 10.45h: Keynote presentation by Ann Skakkebæk
The genetic architecture of sex chromosome aneuploidies – new developments.
10.45h - 11.30h: Keynote presentation by Armin Raznahan
Sex Chromosome Dosage Effects: From the Genome to the Brain
11.30h - 12.00h: Short break
12.00h -12.20h: Oral presentation by Emma Johannsen
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.
12.20h - 12.40h: Oral presentation by Marco Barchi
The proper interplay between the expression of Spo11 splice isoforms and the structure of the pseudoautosomal region leads XY recombination.
12.40h - 13.00h: Oral presentation by Antonio Adamo
The impact of X-polysomy during early embryogenesis in Klinefelter Syndrome and High-grade X chromosome aneuploidy.
13.00h - 14.00h: Posters & lunch
Endocrinology and fertility
14.00h - 14.45h: Keynote presentation by Alberto Ferlin
Testis function, hypogonadism and bone metabolism
14.45h - 15.30h: Keynote presentation by Anders Juul
Klinefelter in transition: auxological, endocrine and metabolic changes during puberty
15.30h - 16.00h: Short break
16.00h - 16.20h: Oral presentation by Martin den Heijer
Aging in Klinefelter patients.
16.20h - 16.40h: Oral presentation by Sofia Boeg Winge
Focal spermatogenesis in men with Klinefelter syndrome requires loss of XIST expression and of the additional X-chromosome in Sertoli cells.
16.40h - 17.00h: Oral presentation by Shanlee Davis
Randomized-controlled trial of testosterone in 70 infants with 47,XXY.
17.00h - 17.15h: Short break
Fertility
17.15h - 18.00h: Keynote presentation by Alan Rogol
Sex Chromosome Aneuploidies and Fertility: 47 XXY, 47XYY, 47XXX, and 45X/47XXX.
Social event
19.00h: Welcome dinner at the National Museum of Antiquities Leiden (Rapenburg 28, Leiden)
DAY 2 - September 13
Venue: Academy Building (Telders Auditorium), Rapenburg 73, Leiden
Opening
08.30h - 09.00h: Walk-in
09.00h - 10.00h: Oral presentation by experience experts
Living with an extra X or Y
Developmental impact in childhood and adolescence
10.00h - 10.45h: Keynote presentation by Sophie van Rijn
Neurocognitive and behavioral development in young children (1-7 years) with Sex Chromosome Trisomy: the TRIXY Early Childhood Study
10.45h - 11.30h: Keynote presentation by Nicole Tartaglia
The eXtraordinarY Babies Study: A Prospective Natural History Study of Health and Neurodevelopment in Children with a Prenatal Diagnosis of Sex Chromosome Trisomy
11.30h - 12.00h: Short break
12.00h - 12.20h: Oral presentation by Shanlee Davis
System-Based Diagnoses in Youth with XXY, XXY, and XXX
12.20h - 12.40h: Oral presentation by Laura Zampini
Oral narrative skills in preschool children with sex chromosome trisomies
12.40h - 13.00h: Oral presentation by Kaat Theelen
Neuropsychiatric difficulties in Klinefelter Syndrome and supporting tool checklist
13.00h - 14.00h Posters & lunch
Impact of X and Y on life course
14.00h - 14.45h: Keynote presentation by Claus Gravholt
Morbidity of 47,XXY and 47,XYY syndromes - similarities and differences
14.45h - 15.30h: Posters
15.30h - 16.00h: Short break
16.00h - 16.20h: Oral presentation by Susan Howell
Non-Invasive Prenatal Testing (NIPT) Results for Participants of the eXtraordinarY Babies Study: Screening, Counseling, Diagnosis, and Discordance
16.20h - 16.40h: Oral presentation by Francesco Carlomagno
The onset and progression of testicular dysfunction in Klinefelter Syndrome
16.40h - 17.00h: Oral presentation by Caroline Harrison
Psychological Effects of Testosterone in Tanner 2-3 Males with XXY: Results of a randomized, placebo-controlled trial
17.00h - 17.15h: Short break
Future perspectives
17.15h - 18.00h: Keynote presentation by Jorg Gromoll
Klinefelter Syndrome- a novel view into testicular function
Social event
18.30h: Boat tour in the historic city center of Leiden including snacks & drinks (starts at Academy Building)
DAY 3 - September 14
Venue: Academy Building (Hortus Botanicus), Rapenburg 73, Leiden
Treatment & guidelines
09.30h - 10.00h: Walk-in
10.00h - 10.45h: presentation and discussion - Alberto Ferlin
Presentation of the 2021 EAA guideline
10.45h - 11.05h: presentation and discussion - Lise Aksglaede
Areas that need more focus in Klinefelter syndrome
11.05h - 11.45h: presentation and discussion - Shanlee Davis
Arguments for new international comprehensive guidelines
11.45h - 12.15h: presentation and discussion - Claus H. Gravholt
Roadmap to new guidelines with proposal for subcommittees
Social event
12.30h - 13.30h: Farewell lunch at the historical botanical gardens of the Academy Building
