The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age

Authors

Mary P. Hamzik, Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.
Andrea L. Gropman, Division of Neurogenetics and Developments Pediatrics, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA.
Michaela R. Brooks, Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.
Sherida Powell, Department of Economics, George Washington University, Washington, DC 20052, USA.
Teresa Sadeghin, Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.
Carole A. Samango-Sprouse, Department of Research, The Focus Foundation, 1251 W Central Ave. Suite A #190, Davidsonville, MD 21035, USA.

Document Type

Journal Article

Publication Date

7-6-2023

Journal

Genes

Volume

14

Issue

7

DOI

10.3390/genes14071402

Keywords

47,XXY; SCA; behavior; early hormonal treatment; hormonal replacement therapy; sex chromosomal aneuploidy

Abstract

47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies investigating HRT's possible positive effect on behavioral outcomes are scarce. This study explores the association between behavioral outcomes and HRT in boys ages 7-12. Patients were divided into 4 groups based on HRT status: untreated, early hormonal treatment (EHT), hormonal booster therapy (HBT), and both EHT and HBT. Analysis of Variance (ANOVA) and Kruskal-Wallis tests were conducted to determine group differences on the Child Behavior Checklist (CBCL) and the Behavior Rating Inventory of Executive Function (BRIEF). The treated groups were found to have better scores in emotional control, initiative, organization of materials, behavioral rating index, metacognition index, and global executive composite than the untreated group on the BRIEF. On the CBCL, the treated groups presented better scores for somatic complaints, social problems, thought problems, attention problems, aggressive behavior, internalizing problems, total problems, affective problems, somatic problems, ADHD problems, oppositional defiant problems, and sluggish problems in comparison to the untreated group. These results offer evidence that HRT, specifically the combination of both EHT and HBT, may be successful in mitigating some undesirable behavioral outcomes. Further research is necessary to determine the efficacy of the combination of EHT and HBT regarding dosage, specific ages, and long-term benefits.

APA Citation

Hamzik, Mary P.; Gropman, Andrea L.; Brooks, Michaela R.; Powell, Sherida; Sadeghin, Teresa; and Samango-Sprouse, Carole A., "The Effect of Hormonal Therapy on the Behavioral Outcomes in 47,XXY (Klinefelter Syndrome) between 7 and 12 Years of Age" (2023). GW Authored Works. Paper 3110.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/3110

Department

Pediatrics