Sex Chromosome Disorders
Conditions
Keywords
Turner syndrome, Klinefelter syndrome, Triple X syndrome, Double Y syndrome, 45,X/46,XY syndrome
Brief 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.
Interventions
None listed
Sponsors
Aarhus University Hospital
University of Aarhus
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
0 Years to 50 Years
Healthy volunteers
No
Inclusion criteria
for pregnant participants in case group: 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 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Fetal gonadal volume | 5 years | Fetal gonadal volume measured by MRI (cm³) |
| Level of DNA methylation | 5 years | Levels of DNA methylation in placenta, blood, saliva, and urothelial cells |
| Level of RNA ekspression | 5 years | Level of RNA ekspression in placenta, blood, saliva, and urothelial cells |
| Height | 5 years | Height in centimeter (cm) |
| Weight | 5 years | Weight in kilogram (kg) or gram (g) |
| Body mass index | 5 years | Body mass index (BMI) in kg/m² |
| Head circumference | 5 years | head circumference in centimeter (cm) |
| Fat mass and fat-free mass | 5 years | Measure of fat mass and fat-free mass by PEA POD (kg) |
| Development | 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 | 5 years | Measure of fecal microbial diversity |
| Fecal microbial composition | 5 year | Measurement of fecal microbial composition |
| Left ventricular ejection fraction | 5 years | Left ventricular ejection fraction measured by echocardiography (%) |
| Left ventricular diameters | 5 years | Left ventricular end-diastolic and end-systolic diameters measured by echocardiography (mm) |
| Interventricular septal wall thickness | 5 years | Interventricular septal wall thickness measured by echocardiography (mm) |
| Heart rate | 5 years | Heart rate (beats per minute) measured by electrocardiogram |
| PR interval | 5 years | PR interval (ms) measured by electrocardiogram |
| QRS duration | 5 years | QRS duration (ms) measured by electrocardiogram |
| Corrected QT interval | 5 years | Corrected QT interval (ms) measured by electrocardiogram |
| Blood pressure | 5 years | Systolic and diastolic blood pressure (mmHg) |
| Congenital heart malformation | 5 years | Congenital heart malformation assessed by echocardiography |
| Aorta diameter | 5 years | Aorta diameter (mm) measured by echocardiography |
| Aortic valve mean gradient | 5 years | Measure of aortic valve mean gradient (mmHG) |
| Mitral valve mean gradient | 5 years | Measure of mitral valve mean gradient (mmHg) |
| Transaortic doppler flow | 5 years | Measure of transaortic doppler flow (m/s) |
| Fetal brain volume | 5 years | Fetal brain volume measured by MRI (cm³) |
| Fetal heart volume | 5 years | Fetal heart volume measured by MRI (cm³) |
| Fetal kidney volume | 5 years | Fetal kidney volume measured by MRI (cm³) |
| Fetal lever volume | 5 years | Fetal lever volume measured by MRI (cm³) |
| Fetal spleen volume | 5 years | Fetal spleen volume measured by MRI (cm³) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Left ventricular mass | 5 years | Calculation of left ventricular mass (g) |
Countries
Denmark
Outcome results
None listed