TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

• Status: Active, not recruiting
• Trial end date: 2021-10-01
• Target enrollment: 0
• Participant gender: Male

Summary

This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about the effect of testosterone on early health and development. The study is a total of three visits over 6 months with assessments of motor skills, body composition (muscle and fat), and hormone levels. This is a randomized, placebo-controlled study but all infants will receive testosterone treatment during the study period. The investigators will learn how testosterone treatment in infancy effects short term outcome measures on health and development.

• Phase: Phase 4
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Colorado, Denver
• Collaborator: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Treatments: Methyltestosterone; Pharmaceutical Solutions; Testosterone; Testosterone 17 beta-cypionate; Testosterone enanthate; Testosterone undecanoate

Criteria

Inclusion Criteria:

• Male infants with 47,XXY karyotype identified prenatally who are 4-12 weeks old (31 to 90 days of age). 47,XXY must be from a diagnostic test such as Chorionic Villus Sampling (CVS), amniocentesis, or post-natal blood/tissue. Non-invasive prenatal screening results alone will not be accepted.

Exclusion Criteria:

• >20 percent mosaicism for a normal cell line

• Gestational age at birth <36 weeks

• Birth weight <2.5th percentile or >97.5 percentile for age (small or large for gestational age)

• History of thrombosis in self or a first degree relative

• Exposure to androgen therapy outside the study protocol

• Use of medications known to affect body composition, such as growth hormone or insulin

• Known allergy to the testosterone cypionate solution components including benzyl benzoate, benzyl alcohol, or cottonseed oil