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Completed

NCT Number: NCT02408445

Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment

This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition. The Investigators know that older boys and men with Klinefelter syndrome often have more fat compared to muscle than adults without Klinefelter syndrome, but we do not know if this difference is present at birth or develops over time. The Investigators will learn if body composition and motor skills are improved with testosterone treatment in infants with Klinefelter syndrome.

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Key information

Conditions

Klinefelter Syndrome Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Hypogonadism Male Urogenital Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Urogenital Abnormalities Urogenital Diseases

Age range

42 day–108 day

Sex eligibility

Male

Study type

Interventional

Phase

Phase 4

Primary location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Male infants with 47,XXY karyotype

Exclusion criteria

  • Gestational age at birth <36 weeks
  • Birth weight <5%ile or >95% for gestational age
  • History of thrombosis in a first degree relative
  • Exposure to androgen therapy outside of the study protocol.

Treatment and study plan

testosterone cypionate 200mg/ml

Drug

Subjects in this group will be randomized to receive testosterone cypionate 200 mg/ml to be given intramuscularly every 4 weeks for a total of 3 doses.

Primary outcomes

  1. Change in Body Fat Percent Z-score

    Time frame: Baseline and 3 months

    Body fat percentage will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period. Age and sex-normed z-scores will be calculated. The Z-score indicates the number of standard deviations away from the mean. A Z-score of 0 is equal to the mean with negative numbers indicating values lower than the mean and positive values higher. Change in the z-score over time, if following a normal growth curve, is 0. Positive change in z-scores indicates a gain in body fat above growth typically expected. Negative change in z-scores indicates a gain in body fat that is less than typically expected.

Secondary outcomes

  1. Serum Luteinizing Hormone (LH)

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. Ultrasensitive LH will be measured.

  2. Serum Follicle Stimulating Hormone (FSH)

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. Ultrasensitive FSH will be measured.

  3. Serum Total Testosterone

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. Total testosterone by mass spectroscopy will be measured.

  4. Serum Inhibin B (INHB)

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. Inhibin B levels will be measured.

  5. Serum Anti-Mullerian Hormone (AMH)

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. AMH levels will be measured.

  6. Leptin

    Time frame: baseline only

    Serum will be collected at the first study visit prior to randomization. Leptin levels will be measured.

  7. Change in Raw Score on the Alberta Infant Motor Scale

    Time frame: 3 months

    Muscle tone and motor development will be assessed by an occupational therapist using the standardized Alberta Infant Motor Scale (AIMS). The AIMS scale measures infant motor maturation from birth until the age of independent walking. An occupational therapists assesses 58 motor behavior items in 4 position categories: prone (21 items), supine (9 items), sitting (12 items) & standing(16 standing). Each item receives one point (range of raw scores 0-58), with higher scores indicating more skills acquired. For change in scores, the raw score at 3 months was subtracted from the baseline raw score.

  8. Change in Score on the Movement Assessment of Infants (MAI)

    Time frame: 3 months

    Muscle tone and motor development will be assessed by an occupational therapist using the standardized Movement Assessment of Infants (MAI). The MAI evaluates four domains: muscle tone, primitive reflex, automatic reactions and volitional movement. All items are scored 1-5 and summed to generate a "Total Risk Score". Lower scores indicate better function, and Total Risk Scores of 8 or more indicate high risk.

  9. Change in Total Motor Standard Score on the Peabody Developmental Motor Scales 2

    Time frame: 3 months

    Motor development will be assessed by an occupational therapist using the standardized Peabody Developmental Motor Scales 2. Standard scores are normalized to age with a mean of 100 and standard deviation of 15. Change in standard score was calculated as the differences between the subject's standard score at 3 months minus the standard score at baseline. A positive change in standard scores would indicate greater growth on the measure relative to peers, while a negative number would indicate slower growth on the measure relative to peers.

  10. Change in Penile Length

    Time frame: Baseline and 3 months

    Stretched penile length will be measured by a physician before randomization and at the end of the study period.

  11. Change in Fat Free Mass

    Time frame: Baseline and 3 months

    Fat free mass (lean mass) will be measured using air displacement plethysmography (PEA POD) at the beginning and end of the study period.

Sponsors and collaborators

Lead sponsor

University of Colorado, Denver

Other

Registry information

Important dates

Study start
2015
Primary completion
2018
Study completion
2020
First posted
Apr 3, 2015
Registry last updated
Apr 15, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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