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Schmidt et al. J Transl Genet Genom 2024;8:77-84 Journal of Translational
DOI: 10.20517/jtgg.2023.43
Genetics and Genomics

Original Article Open Access

An investigation of the anthropometric
measurements in males with 47,XXY (Klinefelter

Syndrome) from birth to five years of age and the
impact of early hormonal treatment (EHT)

1
1
4,5
1
Kara Schmidt , Andrea Gropman , Teresa Sadeghin , Toreh Alysandra Jackson , Carole Samango-
Sprouse 1,2,3 , Margaret Olaya 1
1
Department of Research, The Focus Foundation, Davidsonville, MD 21035, USA.
2
Department of Human and Molecular Genetics, Florida International University, Miami, FL 33180, USA.
3
Department of Pediatrics, George Washington University. Washington, DC 20001, USA.
4
Division of Neurogenetics and Developments Pediatrics, Children’s National Health System, Washington, DC 20001, USA.
5
Department of Neurology, George Washington University, Washington, DC 20001, USA.
Correspondence to: Dr. Carole Samango-Sprouse, Department of Neurogenetics and Developments Pediatrics, Children’s
National Health System, 111 Michigan Ave NW, Washington, DC 20001, USA. E-mail: cssprouse@email.gwu.edu
How to cite this article: Schmidt K, Gropman A, Sadeghin T, Jackson TA, Samango-Sprouse C, Olaya M. An investigation of
the anthropometric measurements in males with 47,XXY (Klinefelter Syndrome) from birth to five years of age and the
impact of early hormonal treatment (EHT). J Transl Genet Genom 2024;8:77-84. https://dx.doi.org/10.20517/jtgg.2023.43
Received: 3 Nov 2023 First Decision: 5 Jan 2024 Revised: 25 Jan 2024 Accepted: 26 Feb 2024 Published: 29 Feb 2024

Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
Aim: 47,XXY (KS) is the most frequently occurring sex chromosome aneuploidy (SCA) with an incidence rate of
1:500 to 1:650 live male births. 47,XXY is characterized by androgen insufficiency and hypogonadism, diminished
phallus size, hypotonia, and increased stature. This investigation examines the relationship between Early
Hormonal Treatment (EHT) and growth in boys with 47,XXY from birth to 5 years.

Methods: A cohort of 134 males with 47,XXY was seen as part of a natural history study and anthropometric
measurements were completed at each evaluation for height (HT), weight (WT), and head circumference (HC).
Data was analyzed for these factors in the group receiving testosterone as EHT (T group) and a no treatment
(No-T) control group.

Results: Significant differences in HC were observed between the T group and No-T group for birth to 12 months.
There was no other significant difference in HC for boys between the ages of 13 to 60 months. Only significant

© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0
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