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

Condition(s) studied

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.

Eligibility

Primary outcome measure(s)

• 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)
• Fetal gonadal volume — 5 years
  Fetal gonadal volume measured by MRI (cm³)

Trial sites (1)

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