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The XYY syndrome: a follow-up study on 38 boys
M Geerts1, J Steyaert, J P Fryns
1Center for Human Genetics, University Hospital Leuven, Belgium.
Insights
Boys with XYY syndrome (47,XYY) have an increased risk of developmental delays and psychosocial issues. Early identification and support are crucial for managing their growth and educational needs.
Area of Science:
- Genetics
- Developmental Pediatrics
- Child Psychiatry
Background:
- Prenatal detection of XYY males (47,XYY) has increased significantly.
- Understanding the developmental trajectory of XYY males is vital for parental counseling and medical surveillance.
Purpose of the Study:
- To characterize the developmental profile of males with 47,XYY karyotype.
- To identify potential developmental challenges and inform appropriate interventions.
Main Methods:
- Observational study of 38 males with 47,XYY karyotype.
- Included 12 cases diagnosed prenatally.
- Longitudinal assessment of developmental milestones and educational placement.
Main Results:
- Increased risk for delayed language and motor development observed.
- Above-average weight, height, and head circumference noted from birth.
- 50% experienced psychosocial problems; increased risk for autism and referral to special education programs from primary school age.
Conclusions:
- Males with 47,XYY karyotype exhibit distinct developmental patterns, including increased risks for specific delays and behavioral concerns.
- Prenatal diagnosis allows for early awareness and targeted support strategies.
- Comprehensive surveillance is recommended to address potential challenges throughout development.
Abstract:
In the last decade there has been a significant increase in the proportion of XYY males detected prenatally, mostly as a fortuitous finding. It is of utmost importance to obtain a clear idea of the developmental profile of boys with karyotype 47,XYY and of possible problem areas during further development in order to inform the parents correctly during pregnancy and to provide an adequate surveillance later on. In this study we observed 38 XYY males, of which 12 were diagnosed prenatally. We found that these patients are at considerably increased risk for delayed language--and/or motor development. From birth on, weight, height and head circumference are above average values. The majority attends kindergarten in the normal education circuit although in 50% of the cases psychosocial problems are documented. From primary school age on, there is an increased risk for child psychiatric disorders such as autism. Moreover, although normally intelligent, many of these boys are referred to special education programmes.
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