Sex Chromosome DisordersNCT07341412
Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
An observational study of Sex Chromosome Disorders, run by University of Aarhus at 1 site in Denmark.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 50 years
- Conditions the study is for
- Sex Chromosome Disorders
- How many people
- 300 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Sep 2024to 1 Jan 2034
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 50 years
- All sexes
- No healthy volunteers
- Child, Adult
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.
Who may be able to join
- Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent
- 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
- Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent
- 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
- 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)
- If parents share joint custody, written informed consent must be obtained from both parents Ability to undergo a physical examination
Who cannot join
- Severe claustrophobia Implanted magnetic material contraindicating MRI
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
The aim of the project is to:
- Investigate organ development and growth in fetuses with sex chromosome disorders;
- Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
- 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;
- Investigate the gut microbiome in children with sex chromosome disorders during the first years of life;
- 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.
- Conditions
- Sex Chromosome Disorders
- Keywords
- Turner syndrome, Klinefelter syndrome, Triple X syndrome, Double Y syndrome, 45,X/46,XY syndrome
- Medical subject headings
- Sex Chromosome Disorders, Turner Syndrome, Klinefelter Syndrome, Triple X syndrome, XYY Karyotype
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Pregnant women carrying a fetus with a sex chromosome disorder | Not described | |
| Pregnant women carrying a fetus without a sex chromosome disorder (Controls) | Not described | |
| Mothers of a child with a sex chromosome disorder | Not described | |
| MOthers of a child without a sex chromosome disorder (Controls) | Not described | |
| Children with a sex chromosome disorder | Not described | |
| Children without a sex chromosome disorder (Controls) | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Level of DNA methylation
Levels of DNA methylation in placenta, blood, saliva, and urothelial cells
Measured: 5 years
Level of RNA ekspression
Level of RNA ekspression in placenta, blood, saliva, and urothelial cells
Measured: 5 years
Height
Height in centimeter (cm)
Measured: 5 years
Weight
Weight in kilogram (kg) or gram (g)
Measured: 5 years
Body mass index
Body mass index (BMI) in kg/m²
Measured: 5 years
Head circumference
head circumference in centimeter (cm)
Measured: 5 years
Fat mass and fat-free mass
Measure of fat mass and fat-free mass by PEA POD (kg)
Measured: 5 years
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.
Measured: 5 years
Fecal microbial diversity
Measure of fecal microbial diversity
Measured: 5 years
Fecal microbial composition
Measurement of fecal microbial composition
Measured: 5 year
Left ventricular ejection fraction
Left ventricular ejection fraction measured by echocardiography (%)
Measured: 5 years
Left ventricular diameters
Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm)
Measured: 5 years
Interventricular septal wall thickness
Interventricular septal wall thickness measured by echocardiography (mm)
Measured: 5 years
Heart rate
Heart rate (beats per minute) measured by electrocardiogram
Measured: 5 years
PR interval
PR interval (ms) measured by electrocardiogram
Measured: 5 years
QRS duration
QRS duration (ms) measured by electrocardiogram
Measured: 5 years
Corrected QT interval
Corrected QT interval (ms) measured by electrocardiogram
Measured: 5 years
Blood pressure
Systolic and diastolic blood pressure (mmHg)
Measured: 5 years
Congenital heart malformation
Congenital heart malformation assessed by echocardiography
Measured: 5 years
Aorta diameter
Aorta diameter (mm) measured by echocardiography
Measured: 5 years
Aortic valve mean gradient
Measure of aortic valve mean gradient (mmHG)
Measured: 5 years
Mitral valve mean gradient
Measure of mitral valve mean gradient (mmHg)
Measured: 5 years
Transaortic doppler flow
Measure of transaortic doppler flow (m/s)
Measured: 5 years
Fetal brain volume
Fetal brain volume measured by MRI (cm³)
Measured: 5 years
Fetal heart volume
Fetal heart volume measured by MRI (cm³)
Measured: 5 years
Fetal kidney volume
Fetal kidney volume measured by MRI (cm³)
Measured: 5 years
Fetal lever volume
Fetal lever volume measured by MRI (cm³)
Measured: 5 years
Fetal spleen volume
Fetal spleen volume measured by MRI (cm³)
Measured: 5 years
Fetal gonadal volume
Fetal gonadal volume measured by MRI (cm³)
Measured: 5 years
Secondary outcomes (1)
Left ventricular mass
Calculation of left ventricular mass (g)
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2026
- Study start1 Sep 2024
- Primary completion1 Jan 2034 (estimated)
- Study completion1 Jan 2034 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Sex Chromosome DisordersStudies of the same condition, open and under way.
- More trials run by University of AarhusThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Aarhus
- Sponsor type
- University, hospital or other
- Collaborators
- Aarhus University Hospital
- Responsible party
- Sponsor
- Investigators
- Anne Skakkebæk, MD, PHD, Principal investigator, Aarhus University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07341412
- Sponsor's protocol ID
- 1-10-72-65-24
- Status last verified
- Dec 2025
- First submitted
- 12 Dec 2025
- Last updated
- 14 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
- ClinicalTrials.gov ID
- NCT07341412
- Acronym / sponsor ID
- 1-10-72-65-24
- Conditions
- Sex Chromosome Disorders
- Keywords
- Turner syndrome, Klinefelter syndrome, Triple X syndrome, Double Y syndrome, 45,X/46,XY syndrome
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University of AarhusUniversity, hospital or other
- Collaborators
- Aarhus University Hospital
- Study start
- 1 Sep 2024 (actual)
- Primary completion
- 1 Jan 2034 (estimated)
- Study completion
- 1 Jan 2034 (estimated)
- First posted
- 14 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The aim of the project is to:
- Investigate organ development and growth in fetuses with sex chromosome disorders;
- Investigate growth, development, and morbidity in children with sex chromosome disorders during the first years of life;
- 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;
- Investigate the gut microbiome in children with sex chromosome disorders during the first years of life;
- 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.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| 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) | – | – |
Who may qualify
- Ages
- 0 to 50 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (7 listed)
- Age ≥18 years Fetus with a genetically verified sex chromosome disorder Written informed consent
- Age ≥18 years Normal first- and second-trimester ultrasound examinations Fetal growth within the normal range Written informed consent
- Age ≥18 years at the time of pregnancy with the child Child with a genetically verified sex chromosome disorder Written informed consent
- 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
- 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)
Key exclusion criteria (1 listed)
- Severe claustrophobia Implanted magnetic material contraindicating MRI
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Level of DNA methylation
Time frame: 5 years
Levels of DNA methylation in placenta, blood, saliva, and urothelial cells
Level of RNA ekspression
Time frame: 5 years
Level of RNA ekspression in placenta, blood, saliva, and urothelial cells
Height
Time frame: 5 years
Height in centimeter (cm)
Weight
Time frame: 5 years
Weight in kilogram (kg) or gram (g)
Body mass index
Time frame: 5 years
Body mass index (BMI) in kg/m²
Head circumference
Time frame: 5 years
head circumference in centimeter (cm)
Fat mass and fat-free mass
Time frame: 5 years
Measure of fat mass and fat-free mass by PEA POD (kg)
Development
Time frame: 5 years
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.
Fecal microbial diversity
Time frame: 5 years
Measure of fecal microbial diversity
Fecal microbial composition
Time frame: 5 year
Measurement of fecal microbial composition
Left ventricular ejection fraction
Time frame: 5 years
Left ventricular ejection fraction measured by echocardiography (%)
Left ventricular diameters
Time frame: 5 years
Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm)
Interventricular septal wall thickness
Time frame: 5 years
Interventricular septal wall thickness measured by echocardiography (mm)
Heart rate
Time frame: 5 years
Heart rate (beats per minute) measured by electrocardiogram
PR interval
Time frame: 5 years
PR interval (ms) measured by electrocardiogram
QRS duration
Time frame: 5 years
QRS duration (ms) measured by electrocardiogram
Corrected QT interval
Time frame: 5 years
Corrected QT interval (ms) measured by electrocardiogram
Blood pressure
Time frame: 5 years
Systolic and diastolic blood pressure (mmHg)
Congenital heart malformation
Time frame: 5 years
Congenital heart malformation assessed by echocardiography
Aorta diameter
Time frame: 5 years
Aorta diameter (mm) measured by echocardiography
Aortic valve mean gradient
Time frame: 5 years
Measure of aortic valve mean gradient (mmHG)
Mitral valve mean gradient
Time frame: 5 years
Measure of mitral valve mean gradient (mmHg)
Transaortic doppler flow
Time frame: 5 years
Measure of transaortic doppler flow (m/s)
Fetal brain volume
Time frame: 5 years
Fetal brain volume measured by MRI (cm³)
Fetal heart volume
Time frame: 5 years
Fetal heart volume measured by MRI (cm³)
Fetal kidney volume
Time frame: 5 years
Fetal kidney volume measured by MRI (cm³)
Fetal lever volume
Time frame: 5 years
Fetal lever volume measured by MRI (cm³)
Fetal spleen volume
Time frame: 5 years
Fetal spleen volume measured by MRI (cm³)
Fetal gonadal volume
Time frame: 5 years
Fetal gonadal volume measured by MRI (cm³)
1 secondary outcome
Left ventricular mass
Time frame: 5 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jan 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Anne Skakkebæk, MD, PHD principal investigator
Aarhus University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sex Chromosome Disorders, run by University of Aarhus at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 14 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Level of DNA methylation (time frame: 5 years). The study lists 29 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2026.