Abstract
Purpose
49,XXXXY (1:85,000-100,000) is a rare sex chromosome aneuploidy that often presents
with complex musculoskeletal abnormalities, decreased cognitive capabilities, speech
and language dysfunction, and behavioral complications. Hormonal replacement therapy,
or testosterone replacement therapy, is associated with improved neurodevelopmental
and behavioral outcomes in males with 49,XXXXY. Two forms of testosterone replacement
therapy, early hormonal treatment (EHT) and hormonal booster therapy (HBT), are associated
with improved neurodevelopmental and behavioral outcomes in these boys. This study
investigates the impact of EHT and HBT on behavioral symptoms in males with 49,XXXXY.
Methods
A total of 59 individuals were divided into 4 groups: 19 no testosterone (no-T), 23
EHT, 6 HBT, and 11 EHT and HBT. An analysis of variance examined group differences
on the Child Behavior Checklist and the Behavior Rating Inventory of Executive Function
ranging from 5 to 18 years.
Results
Although no differences were identified on the Behavior Rating Inventory of Executive
Function, the 3 hormonal replacement therapy groups presented with decreased complications
on numerous variables on the Child Behavior Checklist; these include somatic complaints
(P = .0095), somatic problems (P = .041), internalizing problems (P = .034), externalizing problems (P = .0001), and withdrawn/depression (P = .025).
Conclusion
This study presents evidence that HBT may be a beneficial treatment for individuals
with 49,XXXXY.
Keywords
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Article info
Publication history
Published online: April 12, 2023
Accepted:
April 6,
2023
Received in revised form:
April 5,
2023
Received:
July 11,
2022
Identification
Copyright
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
