ClinicalTrials.gg
Enrolling by invitationNCT07341412Updated Jan 14, 2026

Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders

An observational study in Sex Chromosome Disorders, sponsored by University of Aarhus. Enrolling by invitation at 1 site in Denmark. Open to participants aged 0 Years to 50 Years. Per ClinicalTrials.gov, last updated 2026-01-14.

Sponsored by University of Aarhus · Observational

Study type
Observational
Model
Case-control
Time perspective
Cross-sectional
Enrollment
300
Ages
0 Years to 50 Years
Sex
All
01

Study summary

The aim of the project is to:

  1. Investigate organ development and growth in fetuses with sex chromosome disorders;
  2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
  3. Delineate how variations in sex chromosome number affect the epigenetic and genetic mechanisms regulating gene expression in the placenta and in multiple tissues of the child after birth over time during early childhood;
  4. Investigate the gut microbiome in children with sex chromosome disorders during the first years of life;
  5. Identify the epigenetic and genetic mechanisms and placental and child-specific alterations underlying the phenotype observed in fetuses, children, and adults with sex chromosome disorders, using a deep phenotyping approach.
02

Conditions studied

  • Sex Chromosome Disorders

Keywords

  • Turner syndrome
  • Klinefelter syndrome
  • Triple X syndrome
  • Double Y syndrome
  • 45,X/46,XY syndrome
03

In context

Turner Syndrome

125 studies on the registry are indexed under Turner Syndrome; 33 are open to participants now.

This study's planned enrollment of 300 is above the median of 164 across 70 observational studies indexed under Turner Syndrome.

Browse Turner Syndrome studies →

Lead sponsor

University of Aarhus is the lead sponsor of 1,300 studies on the registry; 189 are open to participants now.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
0 Years to 50 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Recruitment of cases will take place at obstetric departments, departments of clinical genetics, and pediatric departments throughout Denmark.

Recruitment of controls will take place at the Department of Gynecology and Obstetrics and Department of Pediatrics, Aarhus University Hospital as well as via Facebook groups.

Eligibility criteria

Inclusion Criteria for pregnant participants in case group:

Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written

Inclusion Criteria for pregnant participants in control group:

Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent

Inclusion Criteria for mothers in the case group:

Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent

Inclusion Criteria for mothers in the control group:

Age ≥18 years at the time of pregnancy with the child Normal first- and second-trimester ultrasound examinations during the pregnancy Normal fetal growth during the pregnancy Written informed consent

Inclusion Criteria for children in the case group:

If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination Child with a genetically verified sex chromosome disorder (prenatally or postnatally diagnosed)

Inclusion Criteria for children in the control group:

If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination

Exclusion Criteria for all groups:

Severe claustrophobia Implanted magnetic material contraindicating MRI

Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Case-control
Time perspective
Cross-sectional
Enrollment
300 participants (estimated)
Patient registry
No
Biospecimen retention
Samples with dna

Groups and cohorts

  • Pregnant women carrying a fetus with a sex chromosome disorder
  • Pregnant women carrying a fetus without a sex chromosome disorder (Controls)
  • Mothers of a child with a sex chromosome disorder
  • MOthers of a child without a sex chromosome disorder (Controls)
  • Children with a sex chromosome disorder
  • Children without a sex chromosome disorder (Controls)
06

What researchers measure

Primary outcomes

  1. Level of DNA methylation

    Levels of DNA methylation in placenta, blood, saliva, and urothelial cells

    Time frame: 5 years

  2. Level of RNA ekspression

    Level of RNA ekspression in placenta, blood, saliva, and urothelial cells

    Time frame: 5 years

  3. Height

    Height in centimeter (cm)

    Time frame: 5 years

  4. Weight

    Weight in kilogram (kg) or gram (g)

    Time frame: 5 years

  5. Body mass index

    Body mass index (BMI) in kg/m²

    Time frame: 5 years

  6. Head circumference

    head circumference in centimeter (cm)

    Time frame: 5 years

  7. Fat mass and fat-free mass

    Measure of fat mass and fat-free mass by PEA POD (kg)

    Time frame: 5 years

  8. Development

    Bayley-4 will be used to measure development. Ages \& Stages Questionnaires will be used to measure development including social-emotional development drawing on the parents knowledge.

    Time frame: 5 years

  9. Fecal microbial diversity

    Measure of fecal microbial diversity

    Time frame: 5 years

  10. Fecal microbial composition

    Measurement of fecal microbial composition

    Time frame: 5 year

  11. Left ventricular ejection fraction

    Left ventricular ejection fraction measured by echocardiography (%)

    Time frame: 5 years

  12. Left ventricular diameters

    Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm)

    Time frame: 5 years

  13. Interventricular septal wall thickness

    Interventricular septal wall thickness measured by echocardiography (mm)

    Time frame: 5 years

  14. Heart rate

    Heart rate (beats per minute) measured by electrocardiogram

    Time frame: 5 years

  15. PR interval

    PR interval (ms) measured by electrocardiogram

    Time frame: 5 years

  16. QRS duration

    QRS duration (ms) measured by electrocardiogram

    Time frame: 5 years

  17. Corrected QT interval

    Corrected QT interval (ms) measured by electrocardiogram

    Time frame: 5 years

  18. Blood pressure

    Systolic and diastolic blood pressure (mmHg)

    Time frame: 5 years

  19. Congenital heart malformation

    Congenital heart malformation assessed by echocardiography

    Time frame: 5 years

  20. Aorta diameter

    Aorta diameter (mm) measured by echocardiography

    Time frame: 5 years

  21. Aortic valve mean gradient

    Measure of aortic valve mean gradient (mmHG)

    Time frame: 5 years

  22. Mitral valve mean gradient

    Measure of mitral valve mean gradient (mmHg)

    Time frame: 5 years

  23. Transaortic doppler flow

    Measure of transaortic doppler flow (m/s)

    Time frame: 5 years

  24. Fetal brain volume

    Fetal brain volume measured by MRI (cm³)

    Time frame: 5 years

  25. Fetal heart volume

    Fetal heart volume measured by MRI (cm³)

    Time frame: 5 years

  26. Fetal kidney volume

    Fetal kidney volume measured by MRI (cm³)

    Time frame: 5 years

  27. Fetal lever volume

    Fetal lever volume measured by MRI (cm³)

    Time frame: 5 years

  28. Fetal spleen volume

    Fetal spleen volume measured by MRI (cm³)

    Time frame: 5 years

  29. Fetal gonadal volume

    Fetal gonadal volume measured by MRI (cm³)

    Time frame: 5 years

Secondary outcomes

  1. Left ventricular mass

    Calculation of left ventricular mass (g)

    Time frame: 5 years

07

Study locations

1 site
08

References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reached

Started Sep 2024 (actual). Primary completion is estimated for Jan 2034, 112 months after the start.

How these figures are worked out, and which studies are left out of them.

Registered
Dec 12, 2025
First posted
Jan 14, 2026
StartActual
Sep 1, 2024
Primary completionEst.
Jan 1, 2034
CompletionEst.
Jan 1, 2034
Last update
Jan 14, 2026
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Jan 14, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT07341412
Responsible party
Sponsor
First posted
Jan 14, 2026
Start date
Sep 1, 2024
Primary completion
Jan 1, 2034 (estimated)
Completion
Jan 1, 2034 (estimated)
Last update
Jan 14, 2026

Study contacts

Anne Skakkebæk, MD, PHD
principal investigator · Aarhus University Hospital

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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