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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Comprehensive Investigation of the Anthropomorph ...
A Comprehensive Investigation of the Anthropomorphic Measurements in males with 47, XXY & the Impact of Early Hormonal Treatment (EHT)
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This study investigated the impact of Early Hormonal Treatment (EHT) on growth in males with 47,XXY, also known as Klinefelter Syndrome. The study examined anthropometric measurements (AM) including head circumference, height, and weight at various age ranges. A cohort of 159 males with 47,XXY were evaluated over a 23-year period. The results showed significant differences in head circumference, height, and weight between the EHT group and the no treatment group in the first 12 months of life. However, there were no significant differences in head circumference, height, or weight between the two groups after 24 months of age.<br /><br />The findings suggest that there is an initial responsiveness to EHT in the first two years of life, but this effect appears to normalize shortly thereafter. There were no significant differences in growth between the EHT group and the no treatment group in the age range of 24 months to 60 months. These results indicate that EHT is not associated with stunting or significantly advancing growth in boys with 47,XXY between the ages of 2 and 5 years.<br /><br />The study concludes that EHT does not result in significant changes in the growth of boys with 47,XXY in the first 5 years of life. However, EHT is associated with improvements in multiple areas of neurodevelopment. It is worth noting that this study is based on a retrospective and cross-sectional design, and further research is needed to explore the long-term effects of EHT on growth and development in individuals with 47,XXY.<br /><br />References:<br />1. Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., & Ferlin, A. (2017). Klinefelter syndrome (KS): Genetics, clinical phenotype and hypogonadism. Journal of Endocrinological Investigation, 40(2), 123–134.<br />2. Lizarazo, A. H., McLoughlin, M., & Vogiatzi, M. G. (2019). Endocrine aspects of Klinefelter syndrome. Current Opinion in Endocrinology, Diabetes, and Obesity, 26(1), 60–65.<br />3. Samango-Sprouse, C. A., Yu, C., Porter, G. F., Tipton, E. S., Lasutschinkow, P. C., & Gropman, A. L. (2020). A review of the intriguing interaction between testosterone and neurocognitive development in males with 47,XXY. Current Opinion in Obstetrics & Gynecology, 32(2), 140–146.
Asset Subtitle
Presenting Author - Carole A. Samango-Sprouse, EdD; Co-Author - Alexa Taylor, M.S.; Co-Author - Debra Counts, MD; Co-Author - Teresa Sadeghin, MS Ed; Co-Author - Lindsey Lang, B.A; Co-Author - Andrea L. Gropman, MD, FAAP, FACMG, FANA;
Meta Tag
Chromosomal Abnormalities
Noninvasive prenatal screening (NIPS)
Therapy
Co-Author
Alexa Taylor, M.S.
Co-Author
Debra Counts, MD
Co-Author
Teresa Sadeghin, MS Ed
Co-Author
Lindsey Lang, B.A
Co-Author
Andrea L. Gropman, MD, FAAP, FACMG, FANA
Presenting Author
Carole A. Samango-Sprouse, EdD
Keywords
Early Hormonal Treatment
EHT
growth
males
47,XXY
Klinefelter Syndrome
anthropometric measurements
head circumference
height
weight
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