Page 49 - Read Online

Schmidt et al. J Transl Genet Genom 2024;8:77-84 https://dx.doi.org/10.20517/jtgg.2023.43 Page 83

Our findings further support that EHT neither reduces nor advances physical growth in the child with
47,XXY between the ages 2-5. While EHT is still not considered a standard of care for boys with 47,XXY,
there has been an increased focus on its role in treating the associated androgen deficiency. Other studies
within this field show that testosterone administered during minipuberty in the first year of life is associated
with improved speech and language development, reduced behavioral problems, and increased social skills
for boys with this disorder [21,22] . The misconception that EHT may affect the velocity of height in young
children with 47,XXY is not supported by the findings in this paper in that all the boys, regardless of EHT
status, have similar growth patterns by 2 years of age.

DECLARATIONS
Acknowledgments
The authors express their deepest gratitude to all subjects and their families for participating in this study on
47,XXY growth and development. The authors are very appreciative of the pediatric endocrinologists
throughout the country who referred their patients and participated in the administration of the EHT.

Authors’ contributions
Made substantial contributions to the conception and design of the study and performed data analysis and
interpretation: Schmidt K, Samango-Sprouse C
Performed data acquisition, as well as providing administrative, technical, and material support: Schmidt K,
Gropman A, Sadeghin T, Jackson TA, Samango-Sprouse C
Contributed to editorial revisions, development of tables and figures, and updating data analysis: Olaya M

Availability of data and materials
The data sets presented in this article are not readily available because of privacy or ethical restrictions.
Requests to access the data sets should be directed to Samango-Sprouse C at cssprouse@email.gwu.edu.

Financial support and sponsorship
This investigative study was supported by The Focus Foundation.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
No animal studies are presented in this manuscript. The studies involving human individuals were reviewed
and approved by The Western Institutional Review Board, which also approved this study protocol
(#20081226). Written informed consent to participate in this study was provided by the individuals’ legal
guardian/next of kin. No potentially identifiable human images or data are presented in this study.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2024.

REFERENCES
1. Morris JK, Alberman E, Scott C, Jacobs P. Is the prevalence of klinefelter syndrome increasing? Eur J Hum Genet 2008;16:163-70.
DOI PubMed
2. Los E, Leslie SW, Ford GA. Klinefelter syndrome. Treasure Island, FL: StatPearls Publishing. 2023. Available from: https://www.
ncbi.nlm.nih.gov/books/NBK482314/ [Last accessed on 28 Feb 2023].