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Trial · NCT07885163

Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy

NCT07885163, Completed, Université Paris-Saclay

3 sourcestrials-2026-11-12-0.5.0

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ConductScience Library. Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy. Trials, record NCT07885163. Release trials-2026-11-12-0.5.0, 12 Nov 2026. https://conductscience.org/library/trials/NCT07885163

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Trial

As registered on ClinicalTrials.gov, in the graph's capture of the registry.

Title
Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy
NCT number
NCT07885163
Status
Completed
Enrollment
257 participants, actual
Lead sponsor
Université Paris-Saclay
Conditions
Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy, Disorders of Sex Development (DSD), Sex Chromosome Disorders
First posted
2026-10-21
Last updated
2026-10-21

Source ClinicalTrials.gov

Registered outcomes12

Each outcome the trial registered, primary first, in ClinicalTrials.gov's words.

ListOutcomeTime frameDescription
PrimaryDistribution of primary gonadal phenotype in patients with 46,XX/47,XXY mosaicismBaselinenumber and percentage of participants according to primary gonadal phenotype: * bilateral testicles * unilateral testicles * unilateral ovary * unilateral or bilateral ovotestis
SecondaryCorrelation between XX cell-line percentage and final height within the mKS-XX cohortBaseline
Spearman's rank correlation analysis assessing the correlation between the percentage of 46,XX cells and final adult height. The percentage of 46,XX cells (%) was determined by conventional cytogenetic karyotyping, supplemented by fluorescence in situ hybridization (FISH) when available. Final adult height was obtained from clinical records and defined by a difference of less than 1 cm between two consecutive height measurements at least 6 months apart. Final height will be reported in meters. The correlation coefficient is dimensionless. Time Frame: Baseline
SecondaryBetween-group difference in adult height (mKS-XX vs non-mosaic KS)Baseline
Comparison of adult height between patients with mKS-XX and patients with non-mosaic Klinefelter syndrome, using the most recent available assessment at study inclusion. Adult height will be reported in meters.
SecondaryBetween-group difference in body mass index (mKS-XX vs non-mosaic KS)Baseline
Comparison of body mass index between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome, using the most recent available assessment at study inclusion. BMI will be reported in kg/m².
SecondaryBetween-group difference in gonadal phenotype (mKS-XX vs non-mosaic KS)Baseline
Comparison of gonadal phenotype between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome. Gonadal phenotype will include the presence of DSD and ovarian or ovotesticular tissue and will be reported as number and percentage of participants.
SecondaryBetween-group difference in testicular volume (mKS-XX vs non-mosaic KS)Baseline
Comparison of testicular volume between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome, using the most recent available assessment at study inclusion. Testicular volume will be reported in mL.
SecondaryBetween-group difference in LH levels (mKS-XX vs non-mosaic KS)Baseline
Comparison of serum luteinizing hormone levels between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome, using the most recent available measurement at study inclusion. LH will be reported in IU/L.
SecondaryBetween-group difference in FSH levels (mKS-XX vs non-mosaic KS)Baseline
Comparison of serum follicle-stimulating hormone levels between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome, using the most recent available measurement at study inclusion. FSH will be reported in IU/L.
SecondaryBetween-group difference in testosterone levels (mKS-XX vs non-mosaic KS)Baseline
Comparison of serum testosterone levels between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome, using the most recent available measurement at study inclusion. Testosterone will be reported in ng/mL.
SecondaryBetween-group difference in educational level (mKS-XX vs non-mosaic KS)Baseline
Comparison of educational level between patients with 46,XX/47,XXY mosaicism and patients with non-mosaic Klinefelter syndrome. Educational level was assessed from medical records according to the French and Belgian educational systems, using four categories: illiterate/no schooling, CAP/BAC, professional training, and bachelor's degree or higher. Results will be reported as numbers and percentages of participants in each category.

Outcomes0

Each outcome the trial posted results for, in ClinicalTrials.gov's words.

None in this release.

Results by group0

Each measurement the trial posted, group by group, in the words and numbers it posted.

None in this release.

Participant flow0

How many started, completed or left each group, period by period.

None in this release.

Adverse events0

Each adverse event the trial posted, group by group: the participants affected out of those at risk.

None in this release.

Adverse event totals0

The totals the trial posted for each group.

None in this release.

Papers0

The papers the trial lists on ClinicalTrials.gov.

None in this release.

Grants0

The grants NIH RePORTER links to the trial, newest funded first: NIH's, and some of AHRQ's, CDC's, FDA's and VA's. Each shows its title, principal investigators, organization and funder in its newest year.

None in this release.

Trial comparisons0

Comparisons of the trial's two groups, calculated by ConductScience from the counts it posted.

None in this release.

Tests0

The ConductCognition tests this trial's registered outcomes name, as ScienceGraph matched them in trial-tests-2026-11-12-0.2.1.

None in this release.

Data dates

The day each source was copied for this release.

ClinicalTrials.gov
2026-11-12
ClinicalTrials.gov
Results, from AACT
2026-03-23
AACT
NIH grant links
2026-11-13
NIH RePORTER

Sources 3

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ClinicalTrials.govNo license stated
  • NIH RePORTER's clinical studies and project filesPublic domain
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ClinicalTrials.govnone stated
  • NIH RePORTER's clinical studies and project filesPublic domain (NIH RePORTER)

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this trial from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/trials/v1/NCT07885163

GET https://conductscience.org/api/trials/v1/NCT07885163/registered