2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-A Comprehensive Investigation in the Anthropomorphic Measurements of Males with 47,XXY (Klinefelter Syndrome) from 6-18 years

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This comprehensive investigation focused on the anthropometric measurements of males with 47,XXY (Klinefelter's syndrome) between the ages of 6 and 18. The research aimed to describe the measurements of head circumference, height, and weight in these individuals and explore the influence of Hormonal Replacement Therapy (HRT) on these measurements.<br /><br />The study involved 169 prenatally diagnosed males with 47,XXY, and the anthropometric measurements were taken during annual neurodevelopmental evaluations as part of a 20-year natural history study. The measurements were analyzed in two groups: one receiving HRT (T group) and a control group without treatment (No-T group).<br /><br />Significant results were found in certain age ranges. In terms of head circumference, a significant difference was observed at ages 16.1-17.0 years, with the T group having a smaller measurement compared to the No-T group. Similarly, significant differences were found in height at ages 12.1-13.0 and 16.1-17.0 years, with the T group being taller than the No-T group. Weight also showed a significant difference at ages 12.1-13.0, with the T group weighing more than the No-T group.<br /><br />Overall, the findings suggest that HRT does not significantly impact head circumference, height, or weight in most age ranges for males with 47,XXY. However, in selected age ranges, boys receiving testosterone had a higher weight, likely due to increased muscle mass. These findings support previous research indicating a positive effect of HRT on the physical development of boys with 47,XXY.<br /><br />The study highlights the need for further investigation to understand the relationship between growth and HRT in order to develop personalized and precise treatments. It also addresses concerns about HRT potentially stunting growth in prepubescent males with 47,XXY, providing evidence that HRT does not have deleterious effects on growth in this population.

Asset Subtitle

Co-Author - Alexa Taylor, M.S.; Co-Author - Andrea L. Gropman, MD, FAAP, FACMG, FANA; Co-Author - Teresa Sadeghin, MS Ed; Presenting Author - Carole A. Samango-Sprouse, EdD;

Meta Tag

Chromosomal Abnormalities

Noninvasive prenatal screening (NIPS)

Therapy

Co-Author Alexa Taylor, M.S.

Co-Author Andrea L. Gropman, MD, FAAP, FACMG, FANA

Co-Author Teresa Sadeghin, MS Ed

Presenting Author Carole A. Samango-Sprouse, EdD

Keywords

anthropometric measurements

males

47,XXY

Klinefelter's syndrome

head circumference

height

weight

Hormonal Replacement Therapy

HRT

physical development