2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Study

Testosterone Effects on Short-Term Physical, Hormonal, and Neurodevelopmental Outcomes in Infants with 47,XXY/Klinefelter Syndrome: The TESTO Study

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This document summarizesthe "TESTO Study" which aimed to evaluate the short-term physical, hormonal, and neurodevelopmental outcomes of testosterone treatment in infants with 47,XXY/Klinefelter syndrome. The study enrolled male infants with 47,XXY, who were identified prenatally and born term and average for gestational age. The infants were randomized into two groups: Group A received testosterone cypionate 25mg every 4 weeks for 3 doses followed by placebo saline, while Group B received placebo saline for 3 doses followed by testosterone cypionate 25mg every 4 weeks for 3 doses. <br /><br />Various outcomes were assessed including length, weight, penile length, body composition, neurodevelopmental scales, and hormone levels. The results showed that testosterone treatment during the mini-puberty period in infants with XXY induced physiologic changes attributable to systemic androgen exposure but did not affect short-term neurodevelopment. However, it did suppress the HPG axis. The study concluded that testosterone treatment should not be the standard of care for infants with XXY and recommended an individualized approach.<br /><br />The study was supported by NIH/NICHD and future directions include comparing outcomes in this cohort to boys with XXY who have not received testosterone treatment. The study also highlighted the importance of prenatal cell-free DNA screening in identifying more infants with 47,XXY/Klinefelter syndrome and the potential impact of inadequate testosterone during the critical mini-puberty period on the XXY phenotype. The document also includes data on the demographic characteristics of the study population and graphs illustrating the changes in physical growth and hormone levels in each treatment group.

Asset Subtitle

Presenting Author - Shanlee Davis, MD, PhD; Co-Author - Mariah Brown, BA; Co-Author - Susan Howell, MS, CGC, MBA; Co-Author - Jennifer Janusz, PhD; Co-Author - Najiba Lahlou, MD, PhD; Co-Author - Laura Pyle, PhD; Co-Author - Regina Reynolds, MD; Co-Author - Rebecca Wilson, PsyD; Co-Author - Philip Zeitler, MD, PhD; Co-Author - Nicole Tartaglia, MD, MS;

Meta Tag

Chromosomal Abnormalities

Genotype-Phenotype Correlations

Noninvasive prenatal screening (NIPS)

Phenotype

Prenatal Diagnosis

Therapy

Co-Author Mariah Brown, BA

Co-Author Susan Howell, MS, CGC, MBA

Co-Author Jennifer Janusz, PhD

Co-Author Najiba Lahlou, MD, PhD

Co-Author Laura Pyle, PhD

Co-Author Regina Reynolds, MD

Co-Author Rebecca Wilson, PsyD

Co-Author Philip Zeitler, MD, PhD

Co-Author Nicole Tartaglia, MD, MS

Presenting Author Shanlee Davis, MD, PhD

Keywords

TESTO Study

testosterone treatment

infants

47,XXY/Klinefelter syndrome

short-term outcomes

hormonal outcomes

neurodevelopmental outcomes

randomized groups

physiologic changes

HPG axis suppression