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3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY


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.


Sex Chromosome Aneuploidies and Fertility: 47 XXY, 47XYY, 47XXX, and 45X/47XXX.

Social event

National Museum of Antiquities - central hall
National Museum of Antiquities - central hall

DAY 2 - September 13

Venue: Academy Building (Telders Auditorium), Rapenburg 73, Leiden 


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

Academy Building
Academy Building

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

Entrance of the botanical gardens
Entrance of the botanical gardens
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